A L Zaslav, D Blumenthal, J P Willner, G Pierno, J Jacob, J E Fox
Trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One case resulted in a normal liveborn male, the other resulted in an abnormal liveborn female. The karyotype of our case at the time of amniocentesis was 47,XY,+4[3]/ 46,XY[33] and resulted in a normal liveborn male. FISH analysis using an alpha satellite chromosome 4 probe was performed to confirm the cytogenetic findings. Follow-up chromosome analysis of cord blood, peripheral blood, foreskin, and umbilical cord fibroblasts showed a normal 46,XY male karyotype in all cells. FISH analysis of cord blood, umbilical cord fibroblasts, and amniotic fluid cells demonstrated two signals in 246 nuclei (i.e., 46,XY) and three signals in six nuclei (i.e., 47,XY,+4). Here we describe the present case of trisomy 4 mosaicism, the literature is reviewed, and the significance of this finding is discussed.
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A S Bassett, K Hodgkinson, E W Chow, S Correia, L E Scutt, R Weksberg
Genetic syndromes associated with deletions at chromosome 22q11 generally have been diagnosed during childhood based on a constellation of physical features. To investigate a reported association of velocardiofacial syndrome with psychotic disorders in adults, we assessed subjects with DSM-IV schizophrenia or schizoaffective disorder who were referred with two or more syndromal features (palatal, cardiac, facial, or other congenital anomalies, and/or learning difficulties). We report on 10 subjects (5 men and 5 women), mean age 27.2 (SD 6.0) years, who were found to have a 22q11 deletion at locus D22S75 using fluorescence in-situ hybridization (FISH). The mean age at onset of psychosis was 19.6 (SD 4.6) years. Symptoms and course of the psychotic illnesses were unremarkable, but additional signs such as temper outbursts were common. These adult subjects had significantly fewer major palatal (P = .0001) and conotruncal cardiac (P = .05) anomalies but the same high rate of learning difficulties as a sample with deletion 22q11 ascertained through a pediatric clinic [Lindsay et al. (1995): Am J Med Genet 57:514-522]. Minor congenital features and rate of transmitted cases were similar to those previously reported. These results replicate the association of a 22q11 deletion syndrome with schizophrenia and confirm the importance of ascertainment in influencing the phenotype found. The findings support a developmental gene in the 22q11 deletion region causing a complex phenotype which may include significant behavioral components that emerge over time. We support using the term "22q11 deletion syndrome (22DS)," which would encompass physical and psychiatric features, and could also be applied to describe a genetic subtype of schizophrenia.
与染色体22q11缺失相关的遗传综合征通常在儿童时期根据一系列身体特征进行诊断。为了研究成人快速心面综合征与精神病障碍的相关性，我们评估了患有DSM-IV精神分裂症或分裂情感障碍的受试者，这些受试者被转诊为具有两种或多种综合征特征（腭、心脏、面部或其他先天性异常和/或学习困难）。我们报告了10名受试者（5名男性和5名女性），平均年龄27.2岁（SD 6.0），他们使用荧光原位杂交（FISH）在D22S75位点发现22q11缺失。精神病发作的平均年龄为19.6岁（标准差4.6）。精神病的症状和病程并不明显，但脾气爆发等其他症状很常见。这些成年受试者的主要腭（P=0.001）和锥心（P=0.05）异常明显较少，但学习困难率与通过儿科诊所确定的22q11缺失样本相同[Lindsay等人（1995）：Am J Med Genet 57:514-522]。轻微的先天性特征和传播病例率与先前报道的相似。这些结果复制了22q11缺失综合征与精神分裂症的关联，并证实了确定在影响所发现表型方面的重要性。研究结果支持22q11缺失区的发育基因导致复杂表型，该表型可能包括随着时间的推移出现的重要行为成分。我们支持使用“22q11缺失综合征（22DS）”一词，该词涵盖了身体和精神特征，也可用于描述精神分裂症的遗传亚型。
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