De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

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De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

Balkan Journal of Medical Genetics ◽

10.2478/v10034-010-0016-6 ◽

2010 ◽

Vol 13 (1) ◽

pp. 35-37

Author(s):

F Nasiri ◽

F Mahjoubi ◽

G Babamohammadi

Keyword(s):

Case Report ◽

Congenital Anomalies ◽

Cytogenetic Analysis ◽

De Novo ◽

Chromosome 7 ◽

Review Of The Literature ◽

Multiple Congenital Anomalies ◽

Upper Lip ◽

Upper Eyelid ◽

Partial Duplication

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

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De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies

Brain and Development ◽

10.1016/j.braindev.2017.12.013 ◽

2018 ◽

Vol 40 (5) ◽

pp. 406-409 ◽

Cited By ~ 5

Author(s):

Tomoko Saikusa ◽

Munetsugu Hara ◽

Kazuhiro Iwama ◽

Kotaro Yuge ◽

Chihiro Ohba ◽

...

Keyword(s):

Congenital Anomalies ◽

De Novo ◽

Facial Features ◽

Multiple Congenital Anomalies ◽

Related Disorder

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TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies

Clinical Genetics ◽

10.1111/cge.13258 ◽

2018 ◽

Vol 94 (1) ◽

pp. 170-173 ◽

Cited By ~ 2

Author(s):

J. Suleiman ◽

M. Mundt ◽

S. Sampath ◽

A.W. El-Hattab

Keyword(s):

Developmental Delay ◽

Congenital Anomalies ◽

Facial Features ◽

Multiple Congenital Anomalies

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A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies

Scientific Reports ◽

10.1038/srep44446 ◽

2017 ◽

Vol 7 (1) ◽

Cited By ~ 8

Author(s):

Ruiyu Ma ◽

Linbei Deng ◽

Yan Xia ◽

Xianda Wei ◽

Yingxi Cao ◽

...

Keyword(s):

Intellectual Disability ◽

Developmental Delay ◽

Congenital Anomalies ◽

De Novo ◽

Parental Origin ◽

Multiple Congenital Anomalies ◽

Pathogenic Cnvs

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Case Report: Interstitial Deletion 21q22.13-Q22.3 in a Male Patient with Developmental Delay, Holoprosencephaly, Dysmorphic Features, and Multiple Congenital Anomalies

Journal of Molecular Biomarkers & Diagnosis ◽

10.4172/2155-9929.1000222 ◽

2015 ◽

Vol 06 (02) ◽

Cited By ~ 1

Author(s):

Ibtessam Ramzi Hussein

Keyword(s):

Case Report ◽

Developmental Delay ◽

Male Patient ◽

Congenital Anomalies ◽

Interstitial Deletion ◽

Multiple Congenital Anomalies ◽

Dysmorphic Features

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Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

Frontiers in Genetics ◽

10.3389/fgene.2021.741607 ◽

2021 ◽

Vol 12 ◽

Author(s):

Jian Wang ◽

Shiyuan Zhou ◽

Fei He ◽

Xuelian Zhang ◽

Jianqi Lu ◽

...

Keyword(s):

Case Report ◽

Intellectual Disability ◽

Developmental Delay ◽

Critical Region ◽

Congenital Anomalies ◽

Clinical Symptoms ◽

Partial Trisomy ◽

Multiple Congenital Anomalies ◽

Microdeletion Syndrome ◽

Partial Monosomy

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

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