Abstract
A 2 year old Mexican girl with psychomotor retardation, short stature, recurrent pneumonia and purulent otitis media, submucous cleft palate, unilateral choanal stenosis, bifid uvula, and short 5th fingers was evaluated cytogenetically. Trypsin-Giemsa banding revealed 46,XX,12p+, the additional material on chromosome 12 consisting of a dark and light band. Her normal mother and a sister each carry a 12p+ chromosome similar to that of the proband and one chromosome 16 deficient for the segment q22→qter, indicating a balanced translocation: 46,XX,t(12;16)(p13;q22). The proband inherited the maternal 12p+ chromosome and normal chromosome 16. Her karyotype is 46,XX,der12,t(12;16)(p13;q22)mat. She is trisomic for the segment of 16q22→16qter and may be monosomic for the segment 12p13. Although she has had recurrent infections, all immunologic studies including tonsillar biopsy have been normal. Her father and another sister have normal karyotypes. A male half sibling with dysmorphic features died in infancy of pneumonia.
The parents conceived a male child with the same unbalanced translocation as the proband. He has the anatomic defects of his sister plus low set ears, transverse palmar creases, rib and sternal anomalies, ambiguous genitalia and anal atresia. Endocrinologic evaluation has revealed elevated gonadotropins in this child and the proband. These patients show a clinical syndrome which may be distinctive for trisomy of the segment 16q22→16qter and possible monosomy of 12pl3.
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Kurland, G., Lewiston, N., Hintz, RM. et al. 916 FAMILIAL PARTIAL TRISOMY OF THE LONG ARM OF CHROMOSOME 16. Pediatr Res 12 (Suppl 4), 516 (1978). https://doi.org/10.1203/00006450-197804001-00921
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DOI: https://doi.org/10.1203/00006450-197804001-00921