The clinical findings in a child with a terminal deletion (1) (q42 leads to qter) is described and compared with three cases with a similar chromosomal anomaly.
A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed.
A del(11) (q24.2) was ascertained in a 2-year-old child and subsequently in her 20-year-old mother. Both mother and daughter had developmental delay, short stature, and "coarse" facial appearance. We compare our patients' manifestations to those associated with the distal 11q2 deletion phenotype ("Jacobsen" syndrome), and to the one other reported case of del(11)(q24.2). Our patients did not resemble this latter case, but had some findings in common with Jacobsen syndrome. We present our findings in order to contribute to the information on 11q2 deletions.
The chromosome analysis for an unusually tall 13-year-old boy with long slender limbs, clawed toes, pigeon chest, myopia with corectopia, and behavior problems showed a 47, XYY constitution. His dermatoglyphics are characterized by an extremely low ridge count. The diagnosis of Marfan's syndrome is considered.Tall persons with underdevelopment of subcutaneous fat, long fingers, and abnormal joints repre¬ sent a striking picture which proba¬ bly attracted attention long before the disorder was named. Similarly, luxation of the lens and trembling irides are signs that are not easily overlooked, particularly if they occur in families and are combined with tall stature. Thus, E. Williams,' in 1876, described two families in which he ob¬ served such ocular characteristics as-
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