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Ann Genet. 1994;37(1):30-2.

First case of deletion 14q11.2q13: clinical phenotype.

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Cattedra di Genetica Medica, dell'Università degli Studi di Roma La Sapienza, Roma, Italia.


The first case of interstitial deletion 14q11.2q13 is related. The patient showed a severe neurological picture, microcephaly, right plagiocephaly, bilateral cryptorchidy, left hip subluxation and various dysmorphisms. The authors analyzed the characteristic symptoms in order to obtain the specific clinical phenotype. In addition they programmed a clinical follow-up to evaluate the life expectation and the evolution of the disease.

[Indexed for MEDLINE]

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