TY - JOUR
T1 - Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome
AU - Chang, Ching Fen
AU - Li, Ling Hui
AU - Wang, Chung Hsing
AU - Tsai, Fuu Jen
AU - Chen, Tsai Chuan
AU - Wu, Jer Yuarn
AU - Chen, Yuan Tsong
AU - Tsai, Anne Chun Hui
PY - 2010/9
Y1 - 2010/9
N2 - Interstitial deletion of 16q has emerged into a recognizable pattern of congenital malformation. We report on a 9-year-old boy with short stature, psychomotor retardation, high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck, and a normal karyotype. Using high-density oligonucleotide array chip (Affymetrix 6.0) to perform parental and proband samples concurrently on three chips and interpreted as a trio set, a de novo 3.2Mb deletion from bands q12.2 to q13 on chromosome 16 (from 52.08 to 55.3Mb) of paternal origin was identified. The deletion was confirmed by quantitative genomic PCR and the break points were defined by junction PCR. Our study demonstrated the power of high-density oligonucleotide array chip in identifying novel submicroscopic deletions that were not detectable using G-banding cytogenetic technology. Furthermore, our result narrowed down the critical region for craniofacial features in interstitial 16q11.2-q13 deletion syndrome. In patients who have high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck and short stature, high-density array should be included in initial work up.
AB - Interstitial deletion of 16q has emerged into a recognizable pattern of congenital malformation. We report on a 9-year-old boy with short stature, psychomotor retardation, high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck, and a normal karyotype. Using high-density oligonucleotide array chip (Affymetrix 6.0) to perform parental and proband samples concurrently on three chips and interpreted as a trio set, a de novo 3.2Mb deletion from bands q12.2 to q13 on chromosome 16 (from 52.08 to 55.3Mb) of paternal origin was identified. The deletion was confirmed by quantitative genomic PCR and the break points were defined by junction PCR. Our study demonstrated the power of high-density oligonucleotide array chip in identifying novel submicroscopic deletions that were not detectable using G-banding cytogenetic technology. Furthermore, our result narrowed down the critical region for craniofacial features in interstitial 16q11.2-q13 deletion syndrome. In patients who have high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck and short stature, high-density array should be included in initial work up.
KW - Chromosome deletion 16q12.2-13 deletion
KW - Craniofacial anomalies
KW - Psychomotor retardation
KW - Short stature
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U2 - 10.1002/ajmg.a.33580
DO - 10.1002/ajmg.a.33580
M3 - Article
C2 - 20803649
AN - SCOPUS:77956127708
SN - 1552-4825
VL - 152
SP - 2365
EP - 2371
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -