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Monosomy 9p (also known as Alfi's Syndrome, 9p Minus or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23).
Monosomy 9p is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 9. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
16 Φεβ 2012 · In a 2-year-old Japanese boy with clinical characteristics of monosomy 9p syndrome, Kawara et al. (2006) identified complex chromosomal rearrangements involving 7 breakpoints in chromosomes 2 and 9, including a 6.6-Mb deletion at 9p23-p22.3.
Every child is unique – but with a 9p deletion, the likelihood of showing one or more of these symptoms increases: . Developmental delay, particularly speech and language delay. Unusual head shape with or large, rounded forehead or a forehead that points forwards like a keel.
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long ...
A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal ...
sed rare chromosome disorders (RCDs). A 9p duplication occurs when there is extra chromosome material from the short arm of chromosome 9 (9p) in the cells of the body, while a 9p deletion occurs whe.
