ABSTRACT
A girl with congenital malformations and del 4(q31), identified by QFQ- and RFA- techniques, is described. The clinical findings are compared with the four cases of 4q- of the literature. Evident variability of the clinical features and the small number of cases of 4q- does not allow the delineation of a clinical syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, 4-5 , Intellectual Disability/genetics , Abnormalities, Multiple/diagnosis , Child, Preschool , Diagnosis, Differential , Female , Humans , Intellectual Disability/diagnosis , KaryotypingABSTRACT
68 cases of alcohol embryopathy are reported. The main symptoms are intrauterine and postnatal growth retardation (91%), microcephaly (87 per cent), psychomotor and mental retardation (84 per cent) and a typical craniofacial dysmorphism. Other malformations are frequently found such as cardiac defects (31 per cent), anomalies of joints (23 per cent) and genitalia (50 per cent). There is a marked variation in the intensity of the malformations. Taking into account the extent of the craniofacial dysmorphism and the cerebral damage, a classification into three types (I-111) of alcohol embryopathy is proposed. That ethanol has a teratogenic effect seems to be confirmed. The mother's clinical history suggests that the quantity of alcohol consumed has no marked influence on birth weight, length of gestation and severity of the symptoms. Possibly a defective ethanol metabolism in the severely affected mothers may account for the dysplasias.
