Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).

Abstract

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,

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia

“…Based on the changes in TTLL11 expression observed in our proband, and on the published data on its biological role, we speculate that disruption of TTLL11 function might contribute to the molecular pathogenesis of schizophrenia. Interestingly, an interstitial deletion of an overlapping region on 9q, del(9)(q31.2q34.3), has been previously reported in a patient with schizophrenia and intellectual disability (Park et al, 1991), where TTLL11 could be contributing.…”

Disruption of the neuronal PAS3 gene in a family affected with schizophrenia

“…There is one case report of a 28 year old man with mental retardation, schizophrenia, short stature, short webbed neck, dysmorphic face, and mild anomalies of the fingers, who had a del(9)(q32q34.1). 29 The deletion interval in this patient is not yet characterised and the locus for schizophrenia in this patient is as yet unidentified.…”

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

“…Raw data were processed using Karyostudio (Illumina, San Diego, CA, USA), and probe intensity measurements the 9q31.2q32 region identified in our cohort. Most of these were detected using conventional chromosome banding analysis, and to date, no clear syndrome has been identified [2][3][4][5][6][7][8] ). Seven cases have currently been reported using CMA techniques with precise breakpoints that overlap the 9q31.2q32 region.…”

“…Overlapping reported phenotypic features include short stature, SNHL, pubertal delay, and developmental delay. Many of the cases reported using conventional banding techniques also have markedly similar clinical findings, with most patients reported to have hearing loss, short stature, developmental delay, and poor growth [2][3][4][5][6][7][8] ). However, direct comparison is problematic due to the subjectivity associated with assigning chromosomal bands during conventional chromosome analysis.…”