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October 1979

Partial Trisomy of Chromosome 3 (3q12 → qter) Owing to 3q/18p Translocation: A 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)

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