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Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)
Author(s) -
Beemer F. A.,
Pater J. M. Klepde,
Sepers G. J.,
Janssen B.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00242.x
Subject(s) - chromosome , long arm , genetics , biology , microbiology and biotechnology , gene
Two unrelated children, one with a proximal interstitial deletion 1 (l(pter → q21: :q25 → qter)) and the other one with a distal interstitial deletion 1 (l(pter → q41: :q43 → qter)) are presented. The clinical features of the patient with a proximal deletion (q21‐q25) correspond with those of eight earlier reported cases with a deletion lq21/22/23 → q25. The second patient with the distal interstitial deletion (q41‐q43) is the first case published as far as we know. The clinical characteristics of the latter patient are compared with those of six cases with a terminal deletion 1q with at least one common band missing (1q42).