A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome

Chromosome 4p16.3 microdeletions are known to cause Wolf–Hirschhorn syndrome (WHS), which is characterized by a distinct craniofacial gestalt and multiple congenital malformations. The 4p16.3 region encompasses WHS critical region 1 (WHSCR1) and 2 (WHSCR2). The WHSCR contains several genes that have...

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Veröffentlicht in:	Chromosome research 2024-11, Vol.32 (4), p.13-13, Article 13
Hauptverfasser:	Osundiji, Mayowa Azeez, Kahn, Eva, Lanpher, Brendan
Format:	Artikel
Sprache:	eng
Schlagworte:	Animal Genetics and Genomics Biomedical and Life Sciences Case Report Cell Biology Chromosome 4 Chromosome Deletion Chromosomes Chromosomes, Human, Pair 4 - genetics Congenital defects Congenital diseases Convulsions & seizures Female females Genes Genetic testing Genomics Genotype & phenotype Hirschhorn Wolff syndrome Histone-Lysine N-Methyltransferase - genetics Human Genetics Humans Life Sciences Male Pedigree Phenotype Phenotypes Plant Genetics and Genomics Polymorphism Repressor Proteins Wolf-Hirschhorn Syndrome - genetics
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