Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a ...

Burkitt-type acute lymphoblastic leukemia (B-ALL) is thought as a variant of Burkitt lymphoma/leukemia and derived from mature B-cell lymphoblast.B-ALL was developed in a 10-year-old girl. Two characteristics were apparent in this case. First, the lymphoblastic cells were positive for CD10, CD19, CD20, and CD22, but negative for terminal deoxynucleotidyl transferase and surface immunoglobulins,...

First described in 1977 by Pallister et all and independently reported in 1981 by Killian and Teschler-Nicola,2 the syndrome is known for its many anomalies and by various names including Pallistermosaic syndrome, Pallister-Killian syndrome, Pallister-Killian-Teschler-Nicola syndrome, KillianTeschler-Nicola syndrome, and others. Some early cases were misinterpreted as mosaic tetrasomy 21q q. It...

abnormalities [1-3]. Fluorescence in situ hybridization (FISH) analysis was carried out using TUPLE region probe (from Kreatech Diagnostics, Netherland) on metaphase and interphase cells. Presence of two intact signals on chromosome 22 ruled out 22q11.2 deletion. Thus, chromosomal analysis was carried out using the GTG-banding technique and the patient was found to be tetrasomy for sex chromoso...