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Article

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.

American journal of medical genetics - 15 Apr 1993

Aughton D J, AlSaadi A A, Johnson J A, Transue D J, Trock G L

Abstract excerpt

In males, duplication of a portion of Xq is associated with multiple congenital anomalies and developmental delay. Most females recognized as having dup(Xq) are phenotypically apparently normal relatives of phenotypically abnormal males; phenotypic normalcy has been attributed to selective inactivation of the duplicated X chromosome. Heretofore, apparently only 5 distinctly phenotypically abnormal females with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 7683452
DOI: 10.1002/ajmg.1320460212

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.PMID 7683452Read ↗

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.Semantic proximity Read ↗

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.Semantic proximity Read ↗

"De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype.Semantic proximity Read ↗

Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.Semantic proximity Read ↗

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.Semantic proximity Read ↗

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12-->q13.3) inherited from the mother.Semantic proximity Read ↗

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.Semantic proximity Read ↗

Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype.Semantic proximity Read ↗

Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23.Semantic proximity Read ↗

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.Semantic proximity Read ↗

Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation.Semantic proximity Read ↗

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.Semantic proximity Read ↗

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