Deletion of the short arm of chromosome 10 (10p13): Report of a patient and review

Abstract

Since the first description by Elliot et al. [1970, Am J Dis Child 119:72-73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of 10p deletion syndrome and review the literature.

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

“…30,34,47,48 Because several patients have been reported at an age before hearing loss might be obvious, and because in other reports no information on this feature is given, we argue that hearing loss might be more common in partial monosomy 10p than reported to date. The deletion breakpoints of patients BIH, MAJ and HOV suggest that gene(s) involved in hearing loss map distal to D10S1705, for which BIH with a terminal deletion is dizygous.…”

“…The diagnosis DGS was ruled out in patients BIH 34 and AMS (see case report). The bicuspid aortic valve found in BIH is not a typical cardiac defect of the DGS/VCFS spectrum, serum parathyroid hormone and calcium were in the normal range, and despite recurrent infections, the patient showed normal T-cells.…”

“…In addition to the features of the DGS/VCFS spectrum, several other features can be observed in patients with monosomy 10p, including abnormally shaped skull, microcephaly, hand and foot abnormalities, genitourinary anomalies, hearing loss, and severe psychomotoric retardation (for review see). 15,34 In an effort to localise the genes responsible for the features of the DGS/VCFS spectrum and other abnormalities observed in patients with partial monosomy 10p, we performed deletion analysis in 12 patients with partial monosomy 10p. Nine of these patients showed typical features.…”

Interstitial deletion of the short arm of chromosome 10: Report of a case and review of the literature

“…We are aware of 22 patients with a partial deletion of the short arm of chromosome 10 (Elliot et al, 1970;Juberg et al, 1981;Oka et al, 1983;Danesino eta[, 1984;Elstner et al, 1984;Koenig et al, 1985;Greenberg et al, 1986;Monaco et aL, 1991;Kinoshita et al, 1992;Obregon et al, 1992;Shapira et al, 1994). In 21 patients the imbalance was de novo: terminal deletion was found in 17 patients and interstitial deletion in four.…”

Recent advances in the understanding of genetic causes of congenital heart defects

“…Peter Scambler and colleagues (49) studied the locus at chromosomal band 10p13 that had previously been identified in DGS patients with gross chromosomal defects (6,50), performing FISH analyses with several large-insert genomic clones from that region. Using three patients with DGS associated with 10p terminal deletions and one VCFS patient with an interstitial 10p deletion, the smallest region of overlap among these deletions was defined.…”