DiGeorge anomaly and chromosome 10p deletions: One or two loci?

Dasouki, Majed; Jurecic, Vesna; Phillips, John A.; Whitlock, James A.; Baldini, Antonio

doi:10.1002/(sici)1096-8628(19971128)73:1<72::aid-ajmg14>3.0.co;2-o

Am. J. Med. Genet.

1997

DOI: 10.1002/(sici)1096-8628(19971128)73:1<72::aid-ajmg14>3.0.co;2-o

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DiGeorge anomaly and chromosome 10p deletions: One or two loci?

Majed Dasouki

Vesna Jurecic

John A. Phillips

et al.

Abstract: We report on a patient with DiGeorge syndrome (DGS) phenotype or anomaly and an unbalanced translocation [45,XY,-10,-22,+der(10),t(10;22)(p13;q11)] resulting in monosomy of 10p13-pter and 22q11-pter. Because both regions involved in this rearrangement have been implicated in DGS, we performed a molecular cytogenetic analysis of both loci in this patient. Results indicate that the chromosome 22 DGS locus is intact but that the terminal deletion of the short arm of chromosome 10 is adjacent to or partially overl… Show more

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Cited by 21 publications

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“…A DGS2 locus (MIM *601362) has been postulated in patients with cytogenetically visible deletions of chromosome 10p13-p14 (7,8,11). DGS2 is considered to be a contiguous gene syndrome and haploinsufficiency of at least two genes on 10p13-p14 has been proposed to contribute to the DGS2 phenotype (12,13). Deletion of 10p14 and mutations in GATA3 are associated with the hypoparathyroidism, sensorineural deafness, and renal defects (HDR) syndrome (14,15), whereas deletion of the short arm of chromosome 10 proximal to 10p14 is responsible for cardiac and T-cell abnormalities (16).…”

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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

Yatsenko¹,

Yatsenko²,

Szigeti³

et al. 2004

Clinical Genetics

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We present molecular genetic investigations of a 4-year-old boy with craniofacial dysmorphism and developmental delay. Trivial mitral and tricuspid regurgitation without gross structural abnormality was diagnosed by echocardiography. High-resolution chromosome analysis revealed an interstitial deletion, del(10)(p12.1p12.32). To characterize the deletion size and breakpoints, we performed fluorescence in situ hybridization analysis using 27 BAC clones. Our data demonstrate an approximately 5.5 Mb deletion del(10)(p12.1p12.31). Surprisingly, the BAC clone RP11-56H7 that contains NEBL, an apparent downstream gene of the cardiogenic transcription factor HAND2 previously shown to be deleted in the patients with DiGeorge 2 syndrome and 10p13 deletion, was deleted in our patient with 10p12.1-p12.31 deletion. In addition, we provide clinical data and results of molecular analysis for a patient with multiple congenital anomalies including Ebstein's anomaly, kidney malformations, and 10p13-p14 deletion. We also reviewed 19 patients with congenital heart defects and deletions involving 10p and propose that atrial septal defect (ASD) is a common cardiac anomaly associated with DiGeorge 2 syndrome. Based on genotype-phenotype analysis of published patients and those reported herein, we propose an approximately 1.0 Mb critical region between loci D10S547 and D10S2176 in 10p14 to be associated with ASD. Considering that septal defects are the most frequent congenital heart anomaly, we suggest that further investigations in the 10p critical region are important to identify gene(s) responsible for this common birth defect.

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mentioning

confidence: 99%

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

Yatsenko¹,

Yatsenko²,

Szigeti³

et al. 2004

Clinical Genetics

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Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci

et al. 2000

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Over 90% of patients with DiGeorge syndrome (DGS) or velocardiofacial syndrome (VCFS) have a microdeletion at 22q11.2. Given that these deletions are difficult to visualize at the light microscopic level, fluorescence in situ hybridization (FISH) has been instrumental in the diagnosis of this disorder. Deletions on the short arm of chromosome 10 are also associated with a DGS-like phenotype. Since deletions at 22q11.2 and at 10p13p14 result in similar findings, we have developed a dual-probe FISH assay for screening samples referred for DGS or VCFS in the clinical laboratory. This assay includes two test probes for the loci, DGSI at 22q11.2 and DGSII at 10p13p14, and centromeric probes for chromosomes 10 and 22. Of 412 patients tested, 54 were found to be deleted for the DGSI locus on chromosome 22 (13%), and a single patient was found deleted for the DGSII locus on chromosome 10 (0. 24%). The patient with the 10p deletion had facial features consistent with VCFS, plus sensorineural hearing loss, and renal anomalies. Cytogenetic analysis showed a large deletion of 10p [46, XX,del(10)(p12.2p14)] and FISH using a 10p telomere region-specific probe confirmed the interstitial nature of the deletion. Analysis for the DGSI and the DGSII loci suggests that the deletion of the DGSII locus on chromosome 10 may be 50 times less frequent than the deletion of DGSI on chromosome 22. The incidence of deletions at 22q11.2 has been estimated to be 1 in 4000 newborns; therefore, the deletion at 10p13p14 may be estimated to occur in 1 in 200,000 live births.

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Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies

Skrypnyk¹,

Goecke²,

Majewski³

et al. 2002

Am. J. Med. Genet.

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We report on a prenatally diagnosed four-month-old boy with DiGeorge-like phenotype and a deletion of chromosome 10pter --> 14. Fluorescence in situ hybridization (FISH) experiments using phage artificial chromosome (PAC) and yeast artificial chromosome (YAC) clones indicated that the chromosomal breakpoint was located at the proximal boundary of the DiGeorge syndrome 2 (DGS2) critical region. The patient demonstrated a high forehead, high arched eyebrows, short palpebral fissures, sparse eyelashes, prominent nose with bulbous tip, small mouth, receding chin, round ears with deficient helices, cardiac defects atrial septal defect (ASD), ventricular septal defect (VSD), mild brachytelephalangy, mild syndactyly, hypoplastic left kidney, undescended testes, muscular hypertonia, dorsally flexed big toes, and developmental delay. The phenotype corresponded well with the clinical signs of 10p deletion of this region that were described previously. The facial features appeared different from the typical face with the 22q11 deletion.

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DiGeorge anomaly and chromosome 10p deletions: One or two loci?

Cited by 21 publications

References 15 publications

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies

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