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Article

Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1).

American journal of medical genetics - 24 Apr 2000

Collins K A, Eydoux P, Duncan A M, Ortenberg J, Silver K, Der Kaloustian V M

Abstract excerpt

We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The karyotype shows inactivation of the abnormal X chromosome. The translocated portion of 1q remains active in the tissues studied. This is the third case report with...

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Share to Chromosomes, Human, Pair 1

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

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Share to Translocation, Genetic

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Source

Identifiers

PMID: 10766995
DOI: 10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co;2-f

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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.

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