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Erschienen in: The Indian Journal of Pediatrics 3/2019

07.11.2018 | Scientific Letter

13q22.1-q32.1 Microdeletion Syndrome

verfasst von: Ming-Wei Li, Xin-Yi Zou, Chao-Chun Zou

Erschienen in: Indian Journal of Pediatrics | Ausgabe 3/2019

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Excerpt

To the Editor: Interstitial deletion of the long arm of chromosome 13 is characterized by multisystemic anomalies. 13q22.1-q32.1 microdeletion belongs to 13q32 proximal deletion (group 1 of 13q deletion) [1] with clinical manifestations including short stature, mental retardation, special facial features and other moderate abnormalities [2]. …
Literatur
1.
Zurück zum Zitat Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a “critical region” of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 1993;45:52–9.CrossRefPubMed Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a “critical region” of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 1993;45:52–9.CrossRefPubMed
2.
Zurück zum Zitat Grigori P, Panayiotou E, Sismani C, et al. 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. Eur J Med Genet. 2011;54:365–8.CrossRefPubMed Grigori P, Panayiotou E, Sismani C, et al. 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. Eur J Med Genet. 2011;54:365–8.CrossRefPubMed
3.
Zurück zum Zitat Lamount MA, Fitchett M, Dennis NR. Interstitial deletion of distal 13q associated with Hirschsprung’s disease. J Med Genet. 1898;26:100–4.CrossRef Lamount MA, Fitchett M, Dennis NR. Interstitial deletion of distal 13q associated with Hirschsprung’s disease. J Med Genet. 1898;26:100–4.CrossRef
4.
Zurück zum Zitat Alp MY, Cebi AH, Seyhan S, Cansu A, Hatip A, Ikbal M. 22.5 MB deletion of 13q31.1-q34 association with HPE, DWM, and HSCR: a case reporter and redefining the smallest deleted regions. Genet Couns. 2016;27:43–9.PubMed Alp MY, Cebi AH, Seyhan S, Cansu A, Hatip A, Ikbal M. 22.5 MB deletion of 13q31.1-q34 association with HPE, DWM, and HSCR: a case reporter and redefining the smallest deleted regions. Genet Couns. 2016;27:43–9.PubMed
5.
Zurück zum Zitat Kirchhoff M, Bisgaard AM, Stoeva R, et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am J Med Genet A. 2009;149A:894–905.CrossRefPubMed Kirchhoff M, Bisgaard AM, Stoeva R, et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am J Med Genet A. 2009;149A:894–905.CrossRefPubMed
Metadaten
Titel
13q22.1-q32.1 Microdeletion Syndrome
verfasst von
Ming-Wei Li
Xin-Yi Zou
Chao-Chun Zou
Publikationsdatum
07.11.2018
Verlag
Springer India
Erschienen in
Indian Journal of Pediatrics / Ausgabe 3/2019
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-018-2789-7

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