Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review

AbstractWe report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects. This deletion encompasses the IGF1R and COUPTF2 genes, known to lead to fetal growth retardation syndrome. However, kidney malformations are less well known in such conditions, and to the best of our knowledge, no candidate gene has been proposed to date. Here, we review the literature of the 15q26 deletion syndrome and suggest that hypoplastic and multicystic kidneys, the most commonly observed anomalies in this condition, should be considered in the prenatal diagnosis setting. Based on COUPTF2 protein function, we hypothesize that its haploinsufficiency might be responsible for the renal pathology.

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Molecular characterization of a patient with 3p deletion syndrome and a review of the literature

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.32533 ◽

2008 ◽

Vol 146A (21) ◽

pp. 2746-2752 ◽

Cited By ~ 27

Author(s):

Thomas V. Fernandez ◽

I.J. García-González ◽

Christopher E. Mason ◽

G. Hernández-Zaragoza ◽

V.C. Ledezma-Rodríguez ◽

...

Keyword(s):

Molecular Characterization ◽

Deletion Syndrome ◽

Review Of The Literature ◽

3P Deletion Syndrome

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Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2014.04.021 ◽

2014 ◽

Vol 53 (2) ◽

pp. 248-251 ◽

Cited By ~ 4

Author(s):

Yu-Ling Kuo ◽

Chih-Ping Chen ◽

Liang-Kai Wang ◽

Tsang-Ming Ko ◽

Tung-Yao Chang ◽

...

Keyword(s):

Congenital Heart ◽

Heart Defects ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Molecular Cytogenetic ◽

Chromosome 22Q11.2 ◽

Cytogenetic Characterization ◽

Chromosome 22Q11.2 Deletion Syndrome

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Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.03.41-42 ◽

2020 ◽

pp. 41-42

Author(s):

Д.А. Юрченко ◽

М.Е. Миньженкова ◽

Е.Л. Дадали ◽

Н.В. Шилова

Keyword(s):

Mental Retardation ◽

Congenital Heart ◽

Heart Defects ◽

Clinical Manifestations ◽

Formation Mechanisms ◽

Agenesis Of Corpus Callosum ◽

Molecular Cytogenetic ◽

Inverted Duplication ◽

Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

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