Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation

Sillén, Anna; Wadelius, Claes; Annerén, Göran

doi:10.1002/(sici)1096-8628(19981102)80:2<163::aid-ajmg14>3.0.co;2-z

Cited by 11 publications

(2 citation statements)

References 22 publications

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“…The most common cause of death in the reported cases was respiratory complications. One patient died of pneumonia at 6 weeks of age, and another died due to pneumonia caused by complications related to tracheostomy insertion for laryngomalacia 8,11) . Another critical event was reported by Sillen et al 11) The patient survived, but the bronchopneumonia lasted from 6 months to 5 years of age, necessitating the use of a respirator twice.…”

Section: Discussionmentioning

confidence: 99%

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Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report

et al. 2022

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Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or premature deaths due to cardiac or liver failure. This case report describes an 18-month-old patient with partial duplication of the 1q32-44 segments and consequent developmental delays who exhibited improvement in developmental status with rehabilitation. Prenatal ultrasonography and magnetic resonance imaging of the mother revealed ventriculomegaly and atrophic changes in the left cerebral hemisphere of the fetus. The infant was born with micrognathia, microphthalmia, macrocephaly, low-set ears, polydactyly, and long feet at 37+5 weeks of gestation. A chromosomal study revealed an abnormal male karyotype of 46,XY,rec(1)dup(1)(q32.1q44)inv(1)(p36.3q32.1)pat. In this rare case of a patient with partial trisomy, we observed improvement in developmental delays following treatment using appropriate rehabilitation techniques. Further research is required to help validate the findings of this case study and establish a standardized rehabilitation technique that can be subsequently applied to such cases.

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Section: Discussionmentioning

confidence: 99%

“…The patients diagnosed postnatally typically died due to numerous complications. Even if these patients survived, they experienced severe psychomotor and mental developmental delays 10,11) . The patient had severe developmental delays in the present case.…”

Section: Discussionmentioning

confidence: 99%

Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report

et al. 2022

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De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly

et al. 2002

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Interstitial duplications of chromosomal region 1q are rarely seen. We report the first prenatal diagnosis of pure partial trisomy 1q. The fetus was karyotyped for polyhydramnios, micrognathia, and flexion of fingers of both hands. Conventional and molecular cytogenetics showed a de novo direct duplication of the chromosomal region 1q23.1q31.1 leading to a partial trisomy 1q. At autopsy, the fetus showed Pierre Robin sequence (PRS) and camptodactyly. The main histological finding was a decreased number of motoneurons with apoptotic features in the anterior horn of the spinal cord. A literature review and our observations suggest that genetic material mapping to chromosome 1q25 could be responsible for PRS with distal arthrogryposis when this is in triple dose.

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De novo 1q32q44 duplication and distal 1q trisomy syndrome

Nowaczyk¹,

Bayani²,

Freeman³

et al. 2003

American J of Med Genetics Pt A

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We report on an infant with minor anomalies and a de novo 1q duplication. The chromosomal abnormality was diagnosed prenatally after sonographic detection of cerebral ventriculomegaly and bilateral choroid plexus cysts in the fetus. The amniocentesis showed an abnormal male karyotype, 46,XY,dup(1)(q32q44), subsequently confirmed by fluorescence in situ hybridization using whole chromosome paint 1 and comparative genomic hybridization. The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and downward-slanting palpebral fissures, a high-arched and narrow palate, malformed ears, and long feet with overriding second and third toes. This is the sixth case of known duplication involving the 1q32q44 segment; the physical findings in the case reported herein are similar to those of other patients reported previously, providing further evidence of the existence of the "distal 1q trisomy" phenotype.

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Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation

Cited by 11 publications

References 22 publications

Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report

Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report

De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly

De novo 1q32q44 duplication and distal 1q trisomy syndrome

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