Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.

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Abstrakt

Tytuł:: Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.
Autorzy:: Nilay M; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Uttar Pradesh, 226014, Lucknow, India.
Srivastava P; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Uttar Pradesh, 226014, Lucknow, India.
Rai A; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Uttar Pradesh, 226014, Lucknow, India.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Uttar Pradesh, 226014, Lucknow, India. .
Źródło:: Indian journal of pediatrics [Indian J Pediatr] 2021 Aug; Vol. 88 (8), pp. 813-818. Date of Electronic Publication: 2021 May 22.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Publication: [Mumbai] : Dr. K. C. Chaudhuri Foundation, co-published by Springer India
Original Publication: New Delhi : All India Institute Of Medical Sciences
MeSH Terms:: Chromosome Deletion*
Trisomy*/genetics
Chromosomes ; Craniofacial Abnormalities ; Dwarfism ; Humans ; Limb Deformities, Congenital ; Male ; Phenotype ; Urogenital Abnormalities
References:: Anderlid BM, Schoumans J, Hallqvist A, et al. Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet. 2003;11:89–92.
Le Caignec C, De Mas P, Vincent MC, et al. Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases. Am J Med Genet A. 2005;132A:175–80.
Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, et al. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. Eur J Med Genet. 2007;50:120–7.
Martinet D, Filges I, Besuchet Schmutz N, et al. Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. Am J Med Genet A. 2008;146:2094–102.
Linhares ND, Svartman M, Rodrigues TC, Rosenberg C, Valadares ER. Subtelomeric 6p25 deletion/duplication: report of a patient with new clinical findings and genotype-phenotype correlations. Eur J Med Genet. 2015;58:310–8.
Puhl A, Zelazny J, Galetzka D, et al. Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics. Eur J Obstet Gynecol Reprod Biol. 2010;150:119–25.
Piccione M, Antona R, Salzano E, et al. Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis. Am J Med Genet A. 2011;158A:150–4. (PMID: 10.1002/ajmg.a.34308)
Kwun Y, Seo EJ, Yoo HW, Lee BS, Kim KS, Kim EA. Phenotypic variability of a terminal 7q deletion/8q duplication in Korean siblings. Ann Lab Med. 2015;35:557–60.
Khalifa OA, Walter CU, Rahbeeni ZA, Verloes A. Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features. Eur J Med Genet. 2011;54:173–6.
Narayanan DL, Ranganath P, Aggarwal S, Dalal A, Phadke SR, Mandal K. Computer-aided facial analysis in diagnosing Dysmorphic syndromes in Indian children. Indian Pediatr. 2019;56:1017–9. (PMID: 10.1007/s13312-019-1682-4)
White JJ, Mazzeu JF, Coban-Akdemir Z, et al. WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome. Am J Hum Genet. 2018;102:27–43.
Mazzeu JF, Vianna-Morgante AM, Krepischi AC, et al. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. Clin Genet. 2010;77:404–7.
Contributed Indexing:: Keywords: Blended phenotype; Deletion; Duplication; Macrocephaly; Robinow syndrome; Subtelomeric
SCR Disease Name:: Robinow Syndrome
Entry Date(s):: Date Created: 20210522 Date Completed: 20210809 Latest Revision: 20210809
Update Code:: 20240105
DOI:: 10.1007/s12098-021-03763-z
PMID:: 34021867
: Czasopismo naukowe

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Genetic disorders can be monogenic or chromosomal. Deletions, duplications, and cryptic imbalances due to rearrangements of the telomeres are seen in a number of patients with psychomotor and language delay. Here, the authors report a case of 1-y-old boy born to nonconsanguineous couple who was evaluated for global developmental delay with phenotypic resemblance to a monogenic disorder namely Robinow syndrome. Cytogenetic microarray showed a double segment imbalance involving chromosome 6p25.3p25.2 and chromosome 8q23.3q24.3. Robinow syndrome also known as fetal face syndrome is a rare disorder with characteristic facial phenotype resembling fetal face with macrocephaly, low-set ears, broad great toes, gum hypertrophy, micropenis, and rhizomelia. Facial features include hypertelorism, wide mouth and short nose with upturned tip. It can have dominant or recessive mode of inheritance. The chromosomal abnormality in this case may provide clue to some novel gene for Robinow syndrome etiology.
(© 2021. Dr. K C Chaudhuri Foundation.)

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