Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver‐Russell patient

We present the case of a maternal heterodisomy for chromosome 7 in the daughter of a t(7;16)(q21;q24) reciprocal translocation carrier. The proband was referred to the hospital for growth retardation and minor facial dysmorphism without mental retardation. A diagnosis of Silver‐Russell syndrome was...

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Veröffentlicht in:	American journal of medical genetics 2002-09, Vol.111 (4), p.405-408
Hauptverfasser:	Dupont, Jean‐Michel, Cuisset, Laurence, Cartigny, Maryse, Le Tessier, Dominique, Vasseur, Christian, Rabineau, Didier, Jeanpierre, Marc
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences Child chromosomal rearrangement Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 7 Diseases of the osteoarticular system Female Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences reciprocal translocation Silver‐Russell syndrome Translocation, Genetic Uniparental Disomy
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