Trisomy X

Genetic MONDO:0018066 Pathograph 6 Show in embeddings browser hereditary disease chromosomal disorder

Trisomy X (47,XXX; triple X syndrome) is a sex-chromosome aneuploidy caused by an extra X chromosome in females, most often from meiotic nondisjunction. It is the most common female chromosomal abnormality (~1 in 1,000 female births) but is under-diagnosed, as many affected females are mildly affected or asymptomatic. The phenotype — hypothesized to result from overexpression of genes that escape X-inactivation — is variable and commonly includes tall stature, epicanthal folds, hypotonia, and clinodactyly, with higher rates of motor and speech delay, learning disabilities, and psychological/behavioral difficulties. Seizures, renal and genitourinary anomalies, and premature ovarian insufficiency can also occur.

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4
Pathophys.
11
Phenotypes
6
Pathograph
1
Genes
2
Medical Actions
2
References
⚙

Pathophysiology

4
Additional X Chromosome (47,XXX)
Presence of an extra X chromosome in a female, most commonly from meiotic nondisjunction (postzygotic nondisjunction in ~20% of cases); risk rises with advanced maternal age.
Downstream
X-Inactivation Escape / Gene Dosage Imbalance The extra X increases dosage of genes that escape X-inactivation.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Trisomy X most commonly occurs as a result of nondisjunction during meiosis"
Identifies meiotic nondisjunction as the usual origin of the extra X.
X-Inactivation Escape / Gene Dosage Imbalance
Although the extra X is largely inactivated, genes that escape X-inactivation are present in three doses. The trisomy X phenotype is hypothesized to result from overexpression of these escape genes, though genotype-phenotype relationships remain undefined. This is the female counterpart of the X-dosage mechanism in Klinefelter syndrome (47,XXY).
Downstream
Neurodevelopmental Vulnerability
Premature Ovarian Insufficiency
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation"
States the escape-gene overexpression hypothesis for the phenotype.
Neurodevelopmental Vulnerability
Higher rates of motor and speech delay, cognitive deficits and learning disabilities, and psychological difficulties (attention deficits, anxiety, depression) than in the general population.
Downstream
Delayed Speech and Language Development
Learning Disability
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years."
Documents the neurodevelopmental profile of trisomy X.
Premature Ovarian Insufficiency
Ovarian dysgenesis/insufficiency can manifest post-pubertally as secondary amenorrhea or early menopause.
ovary UBERON:0000992 Uberon multi-species anatomy ontology (UBERON) Relation: this pathophysiological event occurs in this anatomical location This pathophysiological event occurs in ovary (UBERON:0000992). UBERON:0000992 is an anatomical location from the Uberon multi-species anatomy ontology.
Show evidence (1 reference)
PMID:24502039 SUPPORT Human Clinical
"growth retardation associated with dysmorphic facial (upslanted palpebral fissure, epichantus, thin lips) and postpubertal, signs of ovarian dysgenesis"
Documents post-pubertal signs of ovarian dysgenesis in trisomy X.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Trisomy X Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
●

Phenotypes

11
Genitourinary 2
Premature Ovarian Insufficiency OCCASIONAL HP:0008209 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Premature ovarian insufficiency (HP:0008209). HP:0008209 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings."
Premature ovarian failure is an associated finding.
Renal and Genitourinary Anomalies OCCASIONAL Abnormality of the genitourinary system HP:0000119 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Genitourinary anomaly, annotated with Abnormality of the genitourinary system (HP:0000119). HP:0000119 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings."
Renal and genitourinary abnormalities are associated findings.
Head and Neck 1
Epicanthus HP:0000286 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Epicanthal folds, annotated with Epicanthus (HP:0000286). HP:0000286 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly."
Epicanthal folds are among the most common physical features.
Limbs 1
Clinodactyly FREQUENT HP:0030084 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Clinodactyly (HP:0030084). HP:0030084 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly."
Clinodactyly is among the most common physical features.
Musculoskeletal 1
Hypotonia FREQUENT HP:0001252 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Hypotonia (HP:0001252). HP:0001252 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly."
Hypotonia is among the most common physical features.
Nervous System 5
Delayed Speech and Language Development FREQUENT HP:0000750 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Delayed speech and language development (HP:0000750). HP:0000750 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years."
Higher rates of speech delay reported in trisomy X.
Motor Delay FREQUENT HP:0001270 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Motor delay (HP:0001270). HP:0001270 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years."
Higher rates of motor delay reported in trisomy X.
Learning Disability FREQUENT Specific learning disability HP:0001328 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Learning disability, annotated with Specific learning disability (HP:0001328). HP:0001328 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years."
Increased risk of learning disabilities in school-age years.
Attention Deficit Hyperactivity Disorder OCCASIONAL HP:0007018 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Attention deficit, annotated with Attention deficit hyperactivity disorder (HP:0007018). HP:0007018 is a phenotype from the Human Phenotype Ontology.
Attention deficits and mood disorders (anxiety, depression) are more common than in the general population.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population."
Attention deficits are more common than in the general population.
Seizures OCCASIONAL HP:0001250 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Seizure (HP:0001250). HP:0001250 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings."
Seizures are an associated finding.
Growth 1
Tall Stature FREQUENT HP:0000098 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Tall stature (HP:0000098). HP:0000098 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly."
Tall stature is among the most common physical features.
🧬

Genetic Associations

1
47,XXX karyotype (extra X chromosome) (Causal)
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Trisomy X most commonly occurs as a result of nondisjunction during meiosis"
Identifies the causal extra X and its meiotic-nondisjunction origin.
💊

Medical Actions

2
Developmental and Educational Support
Action: supportive careNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is supportive care (NCIT:C15747). NCIT:C15747 is a clinical intervention from the NCI Thesaurus. Ontology label: Supportive Care NCIT:C15747
Platform: Behavioral / lifestyle
Early intervention for developmental delays; school-age psychological evaluation to identify and support cognitive/academic, language, and social-emotional needs.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed."
Supports early-intervention therapy for developmental delays.
Speech and Language Therapy
Action: speech and language therapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is speech and language therapy, annotated with Speech Language Therapy (NCIT:C159273). NCIT:C159273 is a clinical intervention from the NCI Thesaurus. Ontology label: Speech Language Therapy NCIT:C159273
Platform: Behavioral / lifestyle
For speech and language delay.
🔬

Diagnosis

1
Karyotype Analysis (47,XXX)
Confirmed by karyotype. Often identified prenatally; postnatal indications include developmental delay/hypotonia, learning disabilities, behavioral difficulties, or premature ovarian failure.
Show evidence (1 reference)
PMID:24502039 SUPPORT Human Clinical
"We analyzed retrospectively the genotype - phenotype correlations for a selected group of 36 patients diagnosed with trisomy X (homogeneous or mosaic) by cytogenetic methods (X chromatin and karyotype)."
Confirms cytogenetic (karyotype) diagnosis of trisomy X.
📊

Prevalence

1
Female live births
Birth Prevalence 100.0 per 100,000 >1 in 1,000 (births)
The most common female chromosomal abnormality, ~1 in 1,000 female births. Estimated that only ~10% of individuals are actually diagnosed, as many are mildly affected or asymptomatic. Risk rises with advanced maternal age.
Show evidence (1 reference)
PMID:20459843 SUPPORT Human Clinical
"It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births."
Provides the ~1 in 1,000 female birth prevalence.
{ }

Source YAML

click to show 
name: Trisomy X
creation_date: "2026-08-22T00:00:00Z"
description: >-
  Trisomy X (47,XXX; triple X syndrome) is a sex-chromosome aneuploidy caused by an
  extra X chromosome in females, most often from meiotic nondisjunction. It is the
  most common female chromosomal abnormality (~1 in 1,000 female births) but is
  under-diagnosed, as many affected females are mildly affected or asymptomatic. The
  phenotype — hypothesized to result from overexpression of genes that escape
  X-inactivation — is variable and commonly includes tall stature, epicanthal folds,
  hypotonia, and clinodactyly, with higher rates of motor and speech delay, learning
  disabilities, and psychological/behavioral difficulties. Seizures, renal and
  genitourinary anomalies, and premature ovarian insufficiency can also occur.
category: Genetic
synonyms:
- 47,XXX
- triple X syndrome
- triplo-X syndrome
- XXX syndrome
parents:
- hereditary disease
- chromosomal disorder
disease_term:
  preferred_term: trisomy X
  term:
    id: MONDO:0018066
    label: trisomy X
prevalence:
- population: Female live births
  measure_type: BIRTH_PREVALENCE
  prevalence_class: ABOVE_1_IN_1000
  rate_per_100000: 100.0
  notes: >-
    The most common female chromosomal abnormality, ~1 in 1,000 female births.
    Estimated that only ~10% of individuals are actually diagnosed, as many are
    mildly affected or asymptomatic. Risk rises with advanced maternal age.
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births."
    explanation: Provides the ~1 in 1,000 female birth prevalence.
pathophysiology:
- name: Additional X Chromosome (47,XXX)
  biological_scale: MOLECULAR
  description: >-
    Presence of an extra X chromosome in a female, most commonly from meiotic
    nondisjunction (postzygotic nondisjunction in ~20% of cases); risk rises with
    advanced maternal age.
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Trisomy X most commonly occurs as a result of nondisjunction during meiosis"
    explanation: Identifies meiotic nondisjunction as the usual origin of the extra X.
  downstream:
  - target: X-Inactivation Escape / Gene Dosage Imbalance
    causal_link_type: DIRECT
    description: The extra X increases dosage of genes that escape X-inactivation.
- name: X-Inactivation Escape / Gene Dosage Imbalance
  biological_scale: MOLECULAR
  description: >-
    Although the extra X is largely inactivated, genes that escape X-inactivation
    are present in three doses. The trisomy X phenotype is hypothesized to result
    from overexpression of these escape genes, though genotype-phenotype
    relationships remain undefined. This is the female counterpart of the X-dosage
    mechanism in Klinefelter syndrome (47,XXY).
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation"
    explanation: States the escape-gene overexpression hypothesis for the phenotype.
  downstream:
  - target: Neurodevelopmental Vulnerability
    causal_link_type: DIRECT
  - target: Premature Ovarian Insufficiency
    causal_link_type: DIRECT
- name: Neurodevelopmental Vulnerability
  biological_scale: ORGANISM
  description: >-
    Higher rates of motor and speech delay, cognitive deficits and learning
    disabilities, and psychological difficulties (attention deficits, anxiety,
    depression) than in the general population.
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years."
    explanation: Documents the neurodevelopmental profile of trisomy X.
  downstream:
  - target: Delayed Speech and Language Development
    causal_link_type: DIRECT
  - target: Learning Disability
    causal_link_type: DIRECT
- name: Premature Ovarian Insufficiency
  biological_scale: ORGANISM
  description: Ovarian dysgenesis/insufficiency can manifest post-pubertally as secondary amenorrhea or early menopause.
  locations:
  - preferred_term: ovary
    term:
      id: UBERON:0000992
      label: ovary
  evidence:
  - reference: PMID:24502039
    reference_title: "Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "growth retardation associated with dysmorphic facial (upslanted palpebral fissure, epichantus, thin lips) and postpubertal, signs of ovarian dysgenesis"
    explanation: Documents post-pubertal signs of ovarian dysgenesis in trisomy X.
phenotypes:
- category: Growth
  name: Tall Stature
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Tall stature
    term:
      id: HP:0000098
      label: Tall stature
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly."
    explanation: Tall stature is among the most common physical features.
- category: Craniofacial
  name: Epicanthus
  phenotype_term:
    preferred_term: Epicanthal folds
    term:
      id: HP:0000286
      label: Epicanthus
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly."
    explanation: Epicanthal folds are among the most common physical features.
- category: Musculoskeletal
  name: Hypotonia
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Hypotonia
    term:
      id: HP:0001252
      label: Hypotonia
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly."
    explanation: Hypotonia is among the most common physical features.
- category: Musculoskeletal
  name: Clinodactyly
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Clinodactyly
    term:
      id: HP:0030084
      label: Clinodactyly
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly."
    explanation: Clinodactyly is among the most common physical features.
- category: Developmental
  name: Delayed Speech and Language Development
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Delayed speech and language development
    term:
      id: HP:0000750
      label: Delayed speech and language development
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years."
    explanation: Higher rates of speech delay reported in trisomy X.
- category: Developmental
  name: Motor Delay
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Motor delay
    term:
      id: HP:0001270
      label: Motor delay
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years."
    explanation: Higher rates of motor delay reported in trisomy X.
- category: Cognitive
  name: Learning Disability
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Learning disability
    term:
      id: HP:0001328
      label: Specific learning disability
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years."
    explanation: Increased risk of learning disabilities in school-age years.
- category: Behavioral
  name: Attention Deficit Hyperactivity Disorder
  frequency: OCCASIONAL
  notes: Attention deficits and mood disorders (anxiety, depression) are more common than in the general population.
  phenotype_term:
    preferred_term: Attention deficit
    term:
      id: HP:0007018
      label: Attention deficit hyperactivity disorder
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population."
    explanation: Attention deficits are more common than in the general population.
- category: Reproductive
  name: Premature Ovarian Insufficiency
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Premature ovarian insufficiency
    term:
      id: HP:0008209
      label: Premature ovarian insufficiency
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings."
    explanation: Premature ovarian failure is an associated finding.
- category: Neurologic
  name: Seizures
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Seizure
    term:
      id: HP:0001250
      label: Seizure
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings."
    explanation: Seizures are an associated finding.
- category: Renal
  name: Renal and Genitourinary Anomalies
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Genitourinary anomaly
    term:
      id: HP:0000119
      label: Abnormality of the genitourinary system
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings."
    explanation: Renal and genitourinary abnormalities are associated findings.
genetic:
- name: 47,XXX karyotype (extra X chromosome)
  association: Causal
  notes: >-
    An additional X chromosome in a female (copy-number gain), most often from
    meiotic nondisjunction, with postzygotic nondisjunction in ~20% of cases;
    mosaic 46,XX/47,XXX also occurs. Risk rises with maternal age. No coordinate
    slot exists in the schema; the whole-chromosome gain is recorded here in prose.
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Trisomy X most commonly occurs as a result of nondisjunction during meiosis"
    explanation: Identifies the causal extra X and its meiotic-nondisjunction origin.
diagnosis:
- name: Karyotype Analysis
  presence: 47,XXX
  notes: >-
    Confirmed by karyotype. Often identified prenatally; postnatal indications
    include developmental delay/hypotonia, learning disabilities, behavioral
    difficulties, or premature ovarian failure.
  evidence:
  - reference: PMID:24502039
    reference_title: "Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "We analyzed retrospectively the genotype - phenotype correlations for a selected group of 36 patients diagnosed with trisomy X (homogeneous or mosaic) by cytogenetic methods (X chromatin and karyotype)."
    explanation: Confirms cytogenetic (karyotype) diagnosis of trisomy X.
treatments:
- name: Developmental and Educational Support
  description: >-
    Early intervention for developmental delays; school-age psychological
    evaluation to identify and support cognitive/academic, language, and
    social-emotional needs.
  therapeutic_modality: BEHAVIORAL
  treatment_term:
    preferred_term: supportive care
    term:
      id: NCIT:C15747
      label: Supportive Care
  evidence:
  - reference: PMID:20459843
    reference_title: "A review of trisomy X (47,XXX)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed."
    explanation: Supports early-intervention therapy for developmental delays.
- name: Speech and Language Therapy
  description: For speech and language delay.
  therapeutic_modality: BEHAVIORAL
  treatment_term:
    preferred_term: speech and language therapy
    term:
      id: NCIT:C159273
      label: Speech Language Therapy
references:
- reference: PMID:20459843
  title: "A review of trisomy X (47,XXX)."
- reference: PMID:24502039
  title: "Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature."
📚

References & Deep Research

References

2
PMID:20459843
A review of trisomy X (47,XXX).
No top-level findings curated for this source.
PMID:24502039
Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.
No top-level findings curated for this source.