Monosomy for 21pter-q21: Case report and assignment of a DNA clone (Fr8-77) to the deleted segment

Abstract

SummaryA 4-month-old Japanese girl with partial monosomy 21 was described. The patient has craniofacial anomalies, a short neck, wide-set nipples, anal atresia, deformed feet, hypertonia, intrauterine growth retardation, and mental deficiency. RFA-and high-resolution GTG-banding chromosome analyses, and Southern-and slot-blot analyses interpreted her karyotype as 45,XX,-2,-21,+der(2)t(2;21)(q37.3;q22.1).The origin of this de novo translocation ascertained by analyses with both QFQheteromorphisms and a Fr8-77/BamHI RFLP was paternal. Comparison of the patient with previously reported patients confirmed that her manifestations are consistent with those of monosomy for 21pter-q21. Based on the results of molecular analyses on the present patient, a DNA clone, Fr8-77 (D21 $82), was assigned to pter-q21.

Two Siblings with Partial Trisomy 15 and Monosomy 21 Associated with Central Nervous System Anomalies.

“…Two cases had both CNS anomaly and midline facial defects such as cleft palate, cleft lip and flat nasal bridge (Fryns et al 1977;Wisniewski et al 1983). Abe et al (1990) reported a case with midline facial defects whose karyotype was 45, XX, -2, -21 , + der(2) t(2; 21) (q3.3; 822.1), but they did not mentioned CNS anomalies. Published cases of partial monosomy 21 mentioning CNS anomalies are shown in Table 1.…”