A girl with sporadic unilateral retinoblastoma and mental retardation has an interstitial deletion in the long arm of chromosome 13. Her mother has a paracentric inversion of one chromosome 13; the deleted chromosome 13 in the daughter is derived from the mother's normal chromosome 13.
A teenage girl with mild retardation and some clinical features suggestive of the Turner syndrome was found to have an r10(p15q26) in blood and skin cells. Quantitative evaluation of 28 red cell enzymes, including two (hexokinase and glutamic-oxalocetic transaminase) known to be on chromosome 10, gave normal values.
A girl has a stable chromosome 11, which does not reveal loss of any chromosomal material. She demonstrates small stature, mild retardation, behavior problems, mild abnormal EEG, prominent sole furrow, increased deep tendon reflexes and hypothyroidism; this latter condition may have contributed to her retardation.
(Fig. 1) was the 3rd child of healthy Italian parents having no common ancestors and without any family history of malformations. The mother indicated no previous abortions. The first 2 children are living and clinically well. The karyotypes of the parents were found to be normal. Birth of the proposita occurred spontaneously 2-i weeks before term following an uneventful pregnancy. The father was 31 years of age at that time, the mother 25 years. The placenta was said to be normal by the obstetrician, however amniotic fluid contained meconium.The baby became blue asphyxtic and was referred to our hospital.Birth weight was 2380 g, body length 45 cm, and head circumference 31-5 cm.The head had a prominent occiput with widely spaced sutures. There was a flat bridge of the nose.The proposita showed micrognathia, high arched palate, low set malformed ears, small eyes with a slight mongo-
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