Monosomy 22 is an extremely rare chro-mosomal anomaly and only six patients have been described in the literature to date since the availability of banding tech-nique(1). A case of monosomy 22 mosai-cism is reported here because of its rarity. This is the fourth case reported so far of monosomy 22 mosaicism(2,4,5) and the first one amongst females. Case Report The proband, a VA year old female child, was the first issue of a healthy couple (Fig. 1). The second issue which is a male child, is absolutely normal. The age of the mother and father was 30 and 35 years, re-spectively. The marriage was a non-con-sanguineous one. A detailed pedigree anal-ysis revealed no chromosomal or genetic abnormality in the family. There was no previous history...
Background: Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognitio...
[[abstract]]Objective We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregn...
The case of a 21/2-month-old male child with intrauterine distrophy features and multiple congenital...
A slightly dysmorphic and mentally defective child with mosaic monosomy 22 is reported. Chromosome 2...
We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocent...
Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely...
We report on a maternal uniparental disomy of chromosome 22 in a patient with severe intra-uterine g...
Abstract Background Ring chromosome instability may influence a patient’s phenotype and challenge it...
monosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the l...
A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine perso...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original ...
Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chro...
A case of prenatally detected mosaicism for a del(22)(q13) is reported. CVS was performed because of...
A case of trisomy 22 with partial long arm deletion (47, +22 q—) studied by G-banding is p...
rearrangement leading to partial trisomy 22 SUMMARY We have examined a boy with a peculiar facial ap...
Background: Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognitio...
[[abstract]]Objective We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregn...
The case of a 21/2-month-old male child with intrauterine distrophy features and multiple congenital...
A slightly dysmorphic and mentally defective child with mosaic monosomy 22 is reported. Chromosome 2...
We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocent...
Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely...
We report on a maternal uniparental disomy of chromosome 22 in a patient with severe intra-uterine g...
Abstract Background Ring chromosome instability may influence a patient’s phenotype and challenge it...
monosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the l...
A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine perso...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original ...
Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chro...
A case of prenatally detected mosaicism for a del(22)(q13) is reported. CVS was performed because of...
A case of trisomy 22 with partial long arm deletion (47, +22 q—) studied by G-banding is p...
rearrangement leading to partial trisomy 22 SUMMARY We have examined a boy with a peculiar facial ap...
Background: Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognitio...
[[abstract]]Objective We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregn...
The case of a 21/2-month-old male child with intrauterine distrophy features and multiple congenital...