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October 1979

Partial Trisomy of Chromosome 3 (3q12 → qter) Owing to 3q/18p TranslocationA Trisomy 3q Syndrome

Author Affiliations

From the Departments of Pediatrics (Drs Salazar, Rosenfeld, and Jhaveri) and Medicine (Drs Verma and Dosik), the Jewish Hospital and Medical Center, Brooklyn, NY; and State University of New York, Downstate Medical Center, (Drs Salazar, Rosenfeld, Verma, Jhaveri, and Dosik), Brooklyn, NY.

Am J Dis Child. 1979;133(10):1006-1008. doi:10.1001/archpedi.1979.02130100030005

• In four previously reported patients with partial 3q trisomy, only a small portion of 3q was trisomic (3q21 → qter or 3q25 → qter). Clinical features in these cases have included the following: lowset ears, mongoloid slant of eyes, hypertelorism, cleft palate, webbed neck, simian creases, short fingers, clinodactyly, hypotonia, and low-set hairline. Cytogenetic studies of a premature, 1,680-g female infant with these clinical features showed this extra material to be part of the long arm of chromosome 3 (3q12 → qter), which resulted in partial trisomy for this segment, ie, 46,XX,−18,+t (3;18) (q 12;p11). Although a larger portion of 3q was involved in this case, the clinical picture was similar to other cases of 3q duplication with or without 3p deletion.

(Am J Dis Child 133:1006-1008, 1979)