Abstract
The patient was born at 35 wks gestation, following a pregnancy remarkable only for some first trimester spotting. Her birth wt was 1.87 Kg. She first rolled over at 9 mos, stood alone at 21 mos. and walked at 22 mos. At age 4 yrs the patient was seen for evaluation of severely delayed speech and global developmental delay. She presented as a small child with height and weight both below the 3rd %ile and head circumference at the 40th %ile. She had an aberrant occipital hair whorl, epicanthal folds, flat nasal bridge and small nasal tip. Analysis of GTG-banded, cultured peripheral lymphocytes revealed a karyotype of 46,X,t(X;3)(q26;q29), t(8;11)(q11.2; p11.2). The parents were found to have normal chromosomes, suggesting de novo origin of both apparently balanced reciprocal translocations in the patient, an extremely rare event. Random facultative heterochromatization of chromosome X may explain the presence of mild dysmorphism and global developmental delay. She could be displaying the effects of a functional partial 3q monosomy due to the extension of facultative heterochromatization to the autosome.
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Welsh-Sloan, J., Mitter, N., Gardner, L. et al. 870 TWO APPARENTLY BALANCED DE NOVO RECIPROCAL TRANSLOCATIONS IN A GIRL WITH GLOBAL DEVELOPMENTAL DELAY AND MILD DYSMORPHISM. Pediatr Res 19, 255 (1985). https://doi.org/10.1203/00006450-198504000-00900
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DOI: https://doi.org/10.1203/00006450-198504000-00900
