Partial duplication 14q/deletion 2q in two sibs due to t(2;14) (q37.1;q31.2) pat.
Two siblings are described with duplication 14q/deletion 2q due to a paternal translocation (2;14) (q37.1;q31.2). The first one, a boy, born at term, lived 14 days. The second one, a female foetus, was born after induced labour when the anomaly was discovered by way of amniocentesis. They both had almost identical phenotypes. From a study of the literature it is inferred that a typical asymmetric head form, low set abnormal ears, micrognathia, long upper lip, rib anomalies, camptodactyly, long fingers and contractures are prominent features of the syndrome.
de la Fuente
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AA
Streeklaboratorium, Dept. Pathology, Enschede, The Netherlands.
Gerssen-Schoorl
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KB
Breed
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AS
D000028:Abortion, Induced; D000782:Aneuploidy; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic