De novo 10q(q21q22) interstitial deletion

Glover, G.; Gabarrón, J.; Ballester, J. A. López

doi:10.1007/bf00284924

Cited by 10 publications

(6 citation statements)

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“…The signs common to all are hypotonia, developmental delay, a broad nasal root, telecanthus and a heart murmur. The other two previously described del(10)(q21q22) patients [Davis et al, 1982;Glover et al, 1987] had apparently low-set ears which we did not observe in the proposita (IV-9).…”

Section: Discussioncontrasting

confidence: 79%

“…The deletion patient, individual IV-9, has developmental delay, hypotonia, a heart murmur, epicanthal folds, a broad nasal root, flat occiput, small abnormal ears, transverse palmar creases and abnormal positioning of the toes. Three previous reports have described de novo deletions for this region of chromosome 10 [Davis et al, 1982;Glover et al, 1987;Marks et al, 1991], 2 of which [Davis et al, 1982;Glover et al, 1987] give clinical descriptions of the index cases. The signs common to all are hypotonia, developmental delay, a broad nasal root, telecanthus and a heart murmur.…”

Section: Discussionmentioning

confidence: 98%

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Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins

et al. 1997

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An interchromosomal insertion in 3 generations of a family was ascertained through two developmentally delayed first cousins. Cytogenetic analysis using G-banding and chromosome painting showed an apparently balanced direct insertion of chromosome 10 material into chromosome 12, ins(12;10)(q15;q21.2q22.1), in the mothers and grandfather of these children. The proposita inherited only the derivative 10 chromosome, resulting in deletion of 10q21.2 --> 22.1 while her cousin inherited only the derivative 12, resulting in duplication of 10q21.2 --> 22.1. A comparison of the proposita with published deletion cases suggests a pattern of anomalies attributable to deletion of the 10q21 --> q22 region: developmental delay, hypotonia, a heart murmur, telecanthus, broad nasal root and ear abnormalities. This is the first report of a nontandem duplication of the 10q21 --> q22 region. The phenotype of the cousin with the duplication does not overlap greatly with published tandem 10q duplications. Finally, this report reaffirms the importance of obtaining family studies of patients with interstitial chromosomal abnormalities.

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Section: Discussioncontrasting

confidence: 79%

Section: Discussionmentioning

confidence: 98%

Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins

et al. 1997

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“…Metaphase and prometaphase cells with the FraXq27.3 were obtained from short term cultures of peripheral blood lymphocytes established from patients with the fragie-X syndrome FUDR medium according to Glover (1 981). For identification of the FraXq27.3, a minimum of 50 well spread metaphases from each individual were analyzed with the sequential (Giemsa/Quinacrine) method described by Glover (1981). Prometaphase cells were obtained from some of the patients and from a normal control fefmale according to Chandier and Yunis (1978).…”

Section: Cells and Mediamentioning

confidence: 99%

The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.

Purrello¹,

Alhadeff²,

Esposito³

et al. 1985

The EMBO Journal

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Two DNA recombinant clones, shown by separate studies to contain DNA sequences homologous to the genes coding for the human blood coagulation Factors VIII and IX, were hybridized in situ to metaphases or prometaphases derived from patients with the fragile‐X syndrome and from a normal control. The results of these experiments indicate that (i) both genes are located in the subtelomeric region of the long arm of the human X chromosome flanking the fragile site at Xq27.3, (ii) the resolution of this localization is approximately 0.5% the length of the human haploid genome, i.e., 1.8 X 10(7) bp, (iii) the linear order of loci within the above region is Factor IX‐fragile site‐Factor VIII‐Xqter. Both the localization and the linear order of these loci have been confirmed by Southern blotting studies using the same molecular probes and a panel of rodent‐human somatic cell hybrids known to have retained different segments of the human X chromosome. The findings described herein and the knowledge that Factor IX deficiency recombines freely with at least two loci of the G6PD cluster support our hypothesis that the chromosomal region which includes the fragile‐X site is normally a region of high meiotic recombination.

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“…The clinical findings in 5 reported cases [Glover et al, 1987;Zenger-Hain et al, 1993;Doheny et al, 1997;Cook et al, 1999;Tzschach et al, 2006] with deletions spanning from 10q11.2 to q22.3 and our case with a 10q22.1q22.2 (74,115,795-77,077,025 bp) ( ϳ 3Mb) microdeletion are summarized in online suppl. table 1.…”

Section: Discussionmentioning

confidence: 99%

Oligoarray (105K) CGH Analysis of Chromosome Microdeletions within 10q22.1q24.32

Reddy

Mardach²,

Bass³

2010

Cytogenet Genome Res

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To populate the chromosome 10 genetic landscape with clinical correlations we describe 3 non-overlapping, nearly contiguous deletions within chromosome 10q22.1q24.32. Three cases were studied by oligoarray comparative genomic hybridization (CGH), cytogenetics, and/or fluorescence in situ hybridization. The array CGH showed de novo deletions: arr 10q22.1q22.2(74,115,795–77,077,025)×1dn, arr 10q22.3q23.2(81,437,039–89,144,374)×1dn and arr 10q23.33q24.32(94,894,780–103,144,781)×1dn. Developmental delay, speech impairment and growth retardation were observed in all 3 patients. Facial palsy and renal dysplasia were the other notable findings. The renal dysplasia was ascribed to the loss of a PAX2 gene in the 10q23.33q24.32 deletion patient (OMIM *167409). The facial palsy was seen in the case with a deletion of 10q22.1q22.2. One of three 10q22.3q23.2 deletions involved low copy repeats. We have described the phenotype specific to the chromosome region involved within 10q22.1–q24.32. The oligoarray analysis improved the clinical management of the patients and enabled counseling for deleted genes.

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De novo 10q(q21q22) interstitial deletion

Abstract: We report a girl with a de novo interstitial deletion in the long arm of a chromosome 10. Clinical features are described.

Cited by 10 publications

References 0 publications

Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins

Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins

The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.

Oligoarray (105K) CGH Analysis of Chromosome Microdeletions within 10q22.1q24.32

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