TY - JOUR
T1 - Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication
AU - Pope, Kathleen
AU - Samanich, Joy
AU - Ramesh, K. H.
AU - Cannizzaro, Linda
AU - Pan, Qiulu
AU - Babcock, Melanie
PY - 2012/3
Y1 - 2012/3
N2 - We report on a child with dextrocardia, atrial septal defect (ASD), severe developmental delay, hypotonia, 13 pairs of ribs, left preauricular choristoma, hirsutism, and craniofacial abnormalities. Prenatal cytogenetic evaluation showed karyotype 46,XY,?dup(8p)ish del(8)pter. Postnatal array CGH demonstrated a 6.8Mb terminal deletion at 8p23.3-p23, an interstitial 31.1Mb duplication within 8p23.1-p11, and a terminal duplication of 0.24Mb at 22q13.33, refining the karyotype to 46,XY,der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1).ish der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1) (D8S504-,MS607+,ARSA+,D8Z1+, RP115713++). Previous reports of distal 8p deletion, 8p duplication, and distal 22q duplication have shown similar manifestations, including congenital heart disease, intellectual impairment, and multiple minor anomalies. We correlate the patient's clinical findings with these particular areas of copy number. This case study supports the use of aCGH to identify subtle chromosomal rearrangement in infants with cardiac malformation as their most significant or only apparent birth defect. Additionally, it illustrates why aCGH is essential in the description of chromosome rearrangements, even those seemingly visible via routine karyotype. This method shows that there is often greater complexity submicroscopically, essential to an adequate understanding of a patient's genotype and phenotype.
AB - We report on a child with dextrocardia, atrial septal defect (ASD), severe developmental delay, hypotonia, 13 pairs of ribs, left preauricular choristoma, hirsutism, and craniofacial abnormalities. Prenatal cytogenetic evaluation showed karyotype 46,XY,?dup(8p)ish del(8)pter. Postnatal array CGH demonstrated a 6.8Mb terminal deletion at 8p23.3-p23, an interstitial 31.1Mb duplication within 8p23.1-p11, and a terminal duplication of 0.24Mb at 22q13.33, refining the karyotype to 46,XY,der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1).ish der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1) (D8S504-,MS607+,ARSA+,D8Z1+, RP115713++). Previous reports of distal 8p deletion, 8p duplication, and distal 22q duplication have shown similar manifestations, including congenital heart disease, intellectual impairment, and multiple minor anomalies. We correlate the patient's clinical findings with these particular areas of copy number. This case study supports the use of aCGH to identify subtle chromosomal rearrangement in infants with cardiac malformation as their most significant or only apparent birth defect. Additionally, it illustrates why aCGH is essential in the description of chromosome rearrangements, even those seemingly visible via routine karyotype. This method shows that there is often greater complexity submicroscopically, essential to an adequate understanding of a patient's genotype and phenotype.
KW - 22q duplication
KW - 8p deletion
KW - 8p duplication
KW - Dextrocardia
KW - Microarray
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UR - http://www.scopus.com/inward/citedby.url?scp=84857122341&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.34431
DO - 10.1002/ajmg.a.34431
M3 - Article
C2 - 22302699
AN - SCOPUS:84857122341
SN - 1552-4825
VL - 158 A
SP - 641
EP - 647
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -