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Review
. 1987;30(2):105-8.

A case of interstitial 1q deletion [46,XY,del(q25q32.1)]

S Hamano  1 , Y Fukushima, T Yamada, H Shimizu, M Okuyama, F Ito, K Maekawa
Affiliations
  • PMID: 3314663
Review

A case of interstitial 1q deletion [46,XY,del(q25q32.1)]

S Hamano et al. Ann Genet. 1987.

Abstract

A 10-year-old male with interstitial deletion of chromosome 1[46,XY,del(1)(q25q32.1)] is reported. Clinical features of the patient included dwarfism, severe mental retardation, microcephaly, flat nasal bridge, low-set ears, short neck, brachydactyly, clinodactyly of the 5th fingers and bilateral cryptorchidism. Comparison of phenotypic characteristics of the present case with those of six cases previously described with similar deletions of chromosome 1 permits the delineation of an identifiable syndrome.

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