We describe a family in which four women had menstrual irregularities and a partial deletion of the long arm of the X chromosome (Xq). Three of the four women had premature ovarian failure (at the ages of 24 to 37 years). Chromosome-banding studies initially suggested that a terminal portion of Xq was deleted. However, DNA-hybridization studies showed that an interstitial portion of Xq was deleted and that the affected women had a 46,XX,del(X)(pter-q21.3::q27-qter) karyotype. These findings help clarify the role of Xq in ovarian function and indicate that the accurate description of such abnormalities requires a combination of cytogenetic and DNA-hybridization analysis.

Case reports Discussion Only one case of similar deletion of bands 3ql2->3q21 has previously been reported by Arai et al. l Other reports of 3q deletion had various deleted portions, such as 3q22-1-q24,2 3q23-*q252 and 3q23-q264 (table). The main clinical features of the present case were severe psychomotor retardation, craniofacial asymmetry, midfacial dysplasia, hypertelorism, epicanthus, high arched palate, long pointed chin, scoliosis, joint contractures, multiple skin pigmentations and renal anomaly. The case of Arai et all had different anomalies from our case including holoprosencephaly, arhinia, and cleft lip and palate. The proband survived only 58 hours after birth. This clinical inconsistency for the same chromosome deletion might be the result of individual difference of the recessive genes on the normal chromosome portion corresponding to the deletion or various environmental effects or both. There are still too few cases to define common characteristics of deletion (3)(q12-*q21). References Arai K, Matukiyo H. Takazawa H. A case report of partial deletion of the long arm of the No 3 chromosome. Med Genet Res 1982;4:1-4. 2 Williamson RA, Donlan MA. Dolan CR, Thuline HC, Harrison MT, Hall JG. Familial interstitial translocation of a portion of 3q into 1 lq resulting in duplication and deletion of region 3q22 1-q24 in different offspring. Am J Med Genet 1981;9: 105-11. 3 Martsolf JT, Ray M. Interstitial deletion of the long arm of chromosome 3. Ann Genet (Paris) 1983;26:98-9.

We report two cases of prenatal detection of lissencephaly by high-resolution ultrasound. The first case studied was referred for high-risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality. Diagnosis of a smooth gyral pattern consistent with lissencephaly was made at 32 weeks' gestation. The second case was referred for prenatal ultrasound because of a size versus dates discrepancy. The ultrasound examination showed a smooth gyral pattern at 31.5 weeks. In light of this ultrasound finding, a fetal blood sample was obtained and a chromosomal abnormality reported, confirming the diagnosis. To our knowledge, these cases represent the first report of the sonographic prenatal diagnosis of cerebral agyria or lissencephaly.

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