Abstract
Congenital OCR have been reported in over 50 patients divided into a familial and de novo categories. Between 1982 and 1986 we saw three unrelated children with de novo (parents had nonnal karyotypes) unbalanced congenital OCR. Lymphocyte and fibroblast karyotypes were studied using G, Q, C, R and NOR banding.
Patient 1. A premature (33 weeks) newborn female (BWT 2 kg, HT 38 cm, OPC 30 cm) had deft lip and palate, telecanthus, choanal atresia and ectrodactyly of hands and feet. The karyotypa shewed t(2;5) (g33;g22), t(3;11)(q27;p11.2) and del(13) (q12q14). The five derivative chromosomes implied six breaks.
Patient 2. A3 months old female (EWT 2.3 kg, HT 42.5 cm, OFC 31 cm) product of a term pregnancy with oligohydramnios and nonnal placenta, had cleft lip and palate and mild facial dysmorphy. Subsequently microcephaly and slow growth were noted. The karyotype showed six derivative chromosomes: t(2;3)(q33.2;p22.5), t(7;18) (q32;q12.2), two inv(2), (p12q24) and (g31q33) and del(10) (p13) implying nine breaks.
Patient 3. A 12 year old male with IQ of 40, HT< 3rd % tile, scoliosis and mild dysmorphy had BWT 3 kg, HT 48.5 cm and unremarkable neonatal period. His karyotype showed seven derivative chromosomes: t(2;11)(q21;p14), t(5;15)(p11;q11), t(6;11)(p23;p14), t(6;20)(p23;p13), del(6)(q26) and del(14)(q24) implying eight breaks.
The phenomenon of congenital OCR in man appears real and the pediatrician should know about it.
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Koisseff, B., Essig, YP. & Neu, R. CONGENITAL COMPLEX CHROMOSOME REARRANGEMENTS (CCR). Pediatr Res 21 (Suppl 4), 229 (1987). https://doi.org/10.1203/00006450-198704010-00375
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DOI: https://doi.org/10.1203/00006450-198704010-00375