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 …

Keywords: syndrome, 9p, CNV, deletion, duplication, developmental, neurodevelopmental, phenotype. Introduction. In this study, we focus on 9p deletion (MIM: 158170) (also called 9p …

Genetic counseling of mosaic and non-mosaic tetrasomy 9p remains difficult because of the possible associated congenital abnormalities, cytogenetic discrepancy in various tissues, true …

Disease Overview. Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting …

Deletion 9p syndrome is a rare chromosomal abnormality with a wide spectrum of manifestations such as craniofacial dysmorphism, congenital anomalies, and psychomotor delay. We report a …

2 Since Rethoré et al reported the first case of trisomy 9p, more than 150 cases of partial or complete trisomies have been described. 3 4. Duplication of 9p is commonly inherited due to a …

1999年8月1日 · various aberrations result in an abnormal 9p; these include monosomy 9, del(9p), add(9p), der(9)t(V;9)(V;p), dic(V;9)(V;p), i(9q) and balanced translocations with 9p …

We have observed two cases of PV with an extra i(9)(p10) as the sole anomaly, and FISH analysis using a 9p-specific chromosome microdissection probe showed that two other PV …

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 …

2023年11月2日 · LOH of 9p was seen in almost 90% of PV-MF vs. 33% of PV patients, further supporting that LOH of 9p may be implicated in MPN progression. Notably, LOH-9p was seen …