Familial partial duplication (1)(p21p31)

A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30‐year‐old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Dupli...

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Veröffentlicht in:	American Journal of Medical Genetics 1995-11, Vol.59 (3), p.291-294
Hauptverfasser:	Hoechstetter, Leah, Soukup, Shirley, Schorry, Elizabeth K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adult BANDING TECHNIQUES Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES CHROMOSOMAL ABERRATIONS chromosomal imbalance Chromosome aberrations Chromosome Aberrations - genetics Chromosome Disorders Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 1 - ultrastructure Cleft Palate - genetics CONGENITAL MALFORMATIONS Dwarfism - genetics Female GENETICS HEREDITARY DISEASES HUMAN CHROMOSOME 1 HUMAN CHROMOSOME 13 Humans Intellectual Disability - genetics KARYOTYPE Male Medical genetics Medical sciences MENTAL DISORDERS partial duplication 1p PATIENTS Pedigree PHENOTYPE trisomy 1p
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Beschreibung
Zusammenfassung:	A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30‐year‐old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed. © 1995 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320590305