Partial trisomy 3q causing mild Cornelia de Lange phenotype.
نویسندگان
چکیده
A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome painting studies) in relation to the possible localisation of the Cornelia de Lange gene are discussed.
منابع مشابه
De novo duplication 3q in an infant with a vascular ring and features overlapping Cornelia de Lange phenotype
Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digital anomalies, genitourinary and cardiac defects as well as growth retardation and developmental delays. While there is clinical overlap with the unrelated Cornelia de Lange syndrome (CDLS), there are distinguishing features and molecular etiologies. Most cases of 3q duplicatio...
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Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...
متن کاملPartial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
et al,5 respectively. To identify the IVS 1 (-13T-*G) mutation, two PCR primer sets were designed, based on the amplification refractory mutation system (ARMS) described by Newton et al.6 The first set amplifies specifically the wild type allele, the second set the IVS1(-13T-G) allele (figure). The frequencies of the three mutant alleles are given in table 1. Our data confirm those of Huie et a...
متن کاملسندرم Cornelia de Lange و معرفی یک مورد شیرخوار مبتلا
Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two...
متن کاملCornelia De Lange Syndrome and Cochlear Implantation
Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss. Case Report: A 3-year-old boy with CD...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 31 2 شماره
صفحات -
تاریخ انتشار 1994