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

Kathleen Pope, Joy Samanich, K.h. Ramesh, Linda Cannizzaro, Qiulu Pan, Melanie Babcock

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)641-647
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number3
DOIs
StatePublished - Mar 2012

Fingerprint

Dextrocardia
Atrial Heart Septal Defects
Ribs
Karyotype
Craniofacial Abnormalities
Choristoma
Hirsutism
Muscle Hypotonia
Cytogenetics
Heart Diseases
Chromosomes
Genotype
Phenotype
Trisomy 8p Chromosome 8

Keywords

  • 22q duplication
  • 8p deletion
  • 8p duplication
  • Dextrocardia
  • Microarray

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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. / Pope, Kathleen; Samanich, Joy; Ramesh, K.h.; Cannizzaro, Linda; Pan, Qiulu; Babcock, Melanie.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 3, 03.2012, p. 641-647.

Research output: Contribution to journalArticle

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abstract = "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.",
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