21 Monosomy in a retarded female infant

21 Monosomy in a retarded female infant

A 20-month-old female infant with complete monosomy 21 is described. She has marked mental and physical retardation, antimongoloid slant, low set ears, micrognathia, syndactyly of the toes, and cardiac abnormalities. Karyotypes of fibroblasts and lymphocytes, examined with Giemsa banding, quinacrine...

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Veröffentlicht in:Journal of medical genetics 1974-12, Vol.11 (4), p.386-389
Hauptverfasser: Halloran, Katherine H., Breg, W. Roy, Mahoney, Maurice J.
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Aneuploidy
Case Reports
Chromosomes, Human, 21-22 and Y
Female
Heart Defects, Congenital
Humans
Hypertelorism - genetics
Infant
Intellectual Disability - genetics
Karyotyping
Micrognathism - genetics
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creator Halloran, Katherine H.
Breg, W. Roy
Mahoney, Maurice J.
description A 20-month-old female infant with complete monosomy 21 is described. She has marked mental and physical retardation, antimongoloid slant, low set ears, micrognathia, syndactyly of the toes, and cardiac abnormalities. Karyotypes of fibroblasts and lymphocytes, examined with Giemsa banding, quinacrine banding, and reversed banding techniques revealed no evidence of translocation.
doi_str_mv 10.1136/jmg.11.4.386
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1468-6244
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source PubMed Central Free; MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection
subjects Abnormalities, Multiple - genetics
Aneuploidy
Case Reports
Chromosomes, Human, 21-22 and Y
Female
Heart Defects, Congenital
Humans
Hypertelorism - genetics
Infant
Intellectual Disability - genetics
Karyotyping
Micrognathism - genetics
title 21 Monosomy in a retarded female infant
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