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Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q
Author(s) -
NAKAYAMA TSUGUYO,
SAKAKIHARA YOICHI,
HANAOKA SHIGERU,
AKAGI KUNIHIKO,
KAMOSHITA SHIGEHIKO
Publication year - 1993
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1993.tb03066.x
Subject(s) - monosomy , medicine , calcification , short stature , chromosome 18 , basal ganglia , karyotype , trisomy , chromosomal translocation , anatomy , partial trisomy , pathology , chromosome , genetics , biology , central nervous system , gene
A patient with partial trisomy for the distal segment of the long arm of chromosome 5 (q35.1 ← qter) with partial 18q monosomy is presented. The mother of the patient was phenotypically normal and was proved to be a carrier of a reciprocal translocation of the long arm of chromosomes 5 and 18 46,XX,t(5;18)(q35.1;q23). The patient shows mild mental retardation, short stature, mild obesity, dysmorphic face, eczema, minor malformations of the extremities, and bilateral intracranial calcification in the basal ganglia. Most of the clinical manifestations of the patient are compatible with the previously reported clinical features of partial trisomy of the distal segment of 5q. However, the calcification of bilateral basal ganglia has not been reported for this chromosomal anomaly.