Korean J Pediatr.  2009 May;52(5):603-606. 10.3345/kjp.2009.52.5.603.

De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence

• Lee SM
• Park MS
• Park KI
• Namgung R
• Lee C
• Lee JS
• Lee KA
• Choi JR

• KMID: 2281465
• DOI: http://doi.org/10.3345/kjp.2009.52.5.603

Abstract

The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).

Keyword

Duplication; Pierre Robin sequence; Trisomy 8p

MeSH Terms

Chromosomes, Human, Pair 8
Cleft Palate
Karyotype
Paint
Pierre Robin Syndrome
Trisomy
Chromosomes, Human, Pair 8
Trisomy