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Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies
Author(s) -
Neu R. L.,
Kousseff B. G.,
Madan S.,
Essig Y.P.,
Miller K.,
Tedesco T. A.
Publication year - 1988
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.1399-0004.1988.tb03413.x
Subject(s) - short stature , monosomy , trisomy , karyotype , microphthalmia , biology , genetics , chromosome , pathology , medicine , endocrinology , gene
A 17‐year‐old male was referred for evaluation because of short stature and severe mental retardation. Major clinical findings included microphthalmia, micrognathia, low‐set ears, a prominent beaked nose, clubbing of digits, and premature greying of hair. Cytogenetic analysis revealed a 45,XY, ‐1/46,XY/47,XY,+1 mosaicism in lymphocyte cultures, a 45,XY, ‐1/46,XY mosaicism in skin fibroblasts, and fra(lp) sites in 2% of the metaphases from lymphocyte, fibroblast and bone marrow cultures. Post‐zygotic non‐disjunction causing this mosaicism is believed to be responsible for the patient's phenotype.