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

Delfor Salazar, MD; Warren Rosenfeld, MD; Ram S. Verma, MSc, PhD; Ramesh C. Jhaveri, MD; Harvey Dosik, MD
Am J Dis Child. 1979;133(10):1006-1008. doi:10.1001/archpedi.1979.02130100030005.
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• 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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