Partial duplication 14q/deletion 2q in two sibs due to t (2;14) (q37.1;q31.2) pat
De la Fuente, A.A.; Gerssen-Schoorl, K.B.; Breed, A.S.
Annales de Genetique 31(4): 254-257
1988
ISSN/ISBN: 0003-3995 PMID: 3265312 Document Number: 308489
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.