A 28 year old man with mental retardation and therapeutically controlled schizophrenia was found to have a de novo interstitial deletion in the long arm of a chromosome 9 (46,XY,del(9Xq32q34.1). Additional phenotypic abnormalities included short stature, a short webbed neck with a low posterior hairline, dysmorphic facies, a narrow palate with an inverted V soft palate, and tapered fingers with bilateral short fith metacarpals. Interstitial deletion of chromosome 9 is a rare finding and we are aware of only one other case involving the q32q34.1 region.Few cases of interstitial deletion of the long arm of chromosome 9 have been reported. We know of two cases involving deletion of a portion of the secondary constriction and adjacent euchromatin.' 2 Ying et a13 reported a more distal deletion (q22q32) in an infant boy with craniofacial abnormalities including hypotelorism, narrow palpebral fissures, sclerocornea, and supraorbital ridge hypoplasia, in addition to other abnormalities including preaxial polydactyly and syndactyly of the toes, hirsutism, unilateral renal dysplasia, and accessory spleens. Turleau et all assigned breakpoints similar to those in our case (q32q34) in their study of a 10 month old male with brachycephaly, hypoplastic midface, frontal bossing, deep nasal bridge, short nose, apparently low set, dysmorphic ears, and downward slanting palpebral fissures. Case reportThe proband is a 28 year old man who was first referred for genetic evaluation at the age of 2 years 3 months for mental retardation, ptosis of the right eye, and apparently small genitalia. At 4 years 8 months a mental age of 3-7 years and an IQ of 75 were recorded. At 15 years of age the proband was again referred with indications of dysmorphic features, slow speech development, and delayed growth. A chromosome study showed a normal modal number of 46 and the five cells karyotyped were interpreted as normal.At 28 years of age the proband's height is 1-57 m, weight 80'7 kg, and head circumference 555 cm (50th centile). The phenotype (fig 1) includes a short neck with slight webbing and a low posterior hairline, altered ear morphology, hypoplastic midface, small mouth with downturned corners, short philtrum,

Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.