Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity

Silva, D De; Duffty, P; Booth, Philip; Auchterlonie, Ian A; Morrison, N; Dean, John

doi:10.1097/00019605-199510000-00004

Cited by 30 publications

(19 citation statements)

References 10 publications

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“…Most subjects (76/126, 60%) were transmitting parents of affected offspring (one 22qDS adult subject reported per study unless otherwise indicated) [Strong, 1968;Young et al, 1980 (n‫;) 3ס‬ Greenberg et al, 1984;Rohn et al, 1984;Williams et al, 1985;Wraith et al, 1985;Meinecke et al, 1986;Keppen et al, 1988;Maaswinkel-Mooij et al, 1989;Stevens et al, 1990;Scambler et al, 1991 (same subject as in Keppen et al, 1988); Wilson et al, 1991;Driscoll et al, 1992;Wilson et al, 1992 (same subject as in De Silva et al, 1995); Desmaze et al, 1993, (n‫;) 4ס‬ Driscoll et al, 1993 (same subject as in Driscoll et al, 1992); Holder et al, 1993;McLean et al, 1993;De Silva et al, 1995 (n‫;)2ס‬ Lindsay et al, 1995b (n‫;)2ס‬ McDonald-McGinn et al, 1995;Morrow et al, 1995;Van Hemel et al, 1995;Leana-Cox et al, 1996 (n‫;) 5ס‬ Ravnan et al, 1996 (n‫;) 4ס‬ Shalev et al, 1996;Cuneo et al, 1997, (n‫;) 4ס‬ Devriendt et al, 1997a;Devriendt et al, 1997b;Digilio et al, 1997 (n‫;) 7ס‬ Levy et al, 1997 (n‫;) 2ס‬ Mehraein et al, 1997 (n‫;…”

Section: Transmitting Parentsmentioning

confidence: 99%

Phenotype of adults with the 22q11 deletion syndrome: A review

et al. 1999

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22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age >/=18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22qDS (497 children and 61 adults) [Ryan et al., 1997: J. Med. Genet. 34:798-804]. Fifty-five studies reported on 126 adults (83 women, 40 men, 3 unknown sex), mean age 29.6 years (SD = 8.7 years). Compared with the European survey, adults with 22qDS reviewed had a lower rate of CHD, 30% versus 75%; chi(2) = 88.65, df = 1, P < 0.0001, but higher rates of identified palate anomalies, 88% versus 15%; chi(2) = 37.45, df = 1, P < 0.0001, and learning difficulties, 94% versus 79%; chi(2) = 12.13, df = 1, P = < 0.0008. The most common finding reported was minor facial anomalies. Few reports provided details of minor physical anomalies. Psychiatric conditions were more prevalent, 36% versus 18%; chi(2)= 5.71, df = 1, P < 0.02, than in the survey: 60% of reviewed adults were transmitting parents (72% mothers) ascertained following diagnosis of affected offspring. They had lower rates of CHD, cleft palate, and psychiatric disorders but similar rates of learning disabilities, and other palate and facial anomalies compared with adults ascertained by other methods. The results suggest that learning disabilities and facial and palate anomalies may be key findings in 22qDS adults, but that ascertainment is a key factor in the observed phenotype. Comprehensive studies of adults with 22qDS identified independently of familial transmission are necessary to further delineate the phenotype of adults and to determine the natural history of the syndrome.

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Section: Transmitting Parentsmentioning

confidence: 99%

Phenotype of adults with the 22q11 deletion syndrome: A review

et al. 1999

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“…Deletions in 22q11.2 have been found in several other syndromes that share part of the phenotypic spectrum found in DGS and VCFS, particularly heart defects [Wilson et al, 1991;Giannotti et al, 1994;McDonaldMcGinn et al, 1995]. Typical to these syndromes is considerable inter-and intrafamilial variability [De Silva et al, 1995;Ryan et al, 1997;Mah et al, 1999]. Most del22q11 patients have a common 3-Mb deletion, a minority has a proximal 1.5-Mb deletion, and few display unique nested deletions, which do not always overlap with one another within the 3-Mb typically deleted region [Morrow et al, 1995;Carlson et al, 1997;Kurahashi et al, 1997;O'Donnell et al, 1997;Yamagishi et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Association of tetralogy of Fallot with a distinct region of del22q11.2

et al. 2001

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Congenital heart defects (CHDs) appear in greater frequency among relatives of patients and in individuals with DiGeorge syndrome (DGS) or velo-cardio-facial syndrome (VCFS). A majority of these patients and part of the apparently nonsyndromic CHD patients with conotruncal defects manifest hemizygous deletions within chromosome 22q11.2 (del22q11). We tested myocardial tissues of 31 CHD patients, 21 with tetralogy of Fallot (TOF) and 10 with a double-chamber right ventricle (DCRV). DNA isolated from tissues removed at corrective surgery was analyzed for homo- or heterozygosity of nine polymorphic short tandem repeat (STR) markers along the 22q11.2 region. DNA from the blood of 45 healthy individuals represented the general population. Ten of the 21 TOF patients (48%) showed homozygosity for three or more consecutive markers, indicating deletions of various sizes. No such indication was found for DCRV patients. Heterozygosity for markers D22S1648, D22S941, and D22S944 was lower in the TOF group than in normal controls, defining a minimal critical region (MCR) for the deletion. Our findings support an association between TOF and hemizygosity in 22q11.2, suggesting a distinct region, between markers D22S1638 and COMT, that may harbor TOF susceptibility genes.

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“…The transmission of 22q11.2 deletions from parent to child has been well documented [Ryan et al, 1997]. The varying severity of features among family members is not surprising, and has been previously reported in familial chromosome 22q11 deletion [De Silva et al, 1995].…”

Section: Discussionmentioning

confidence: 69%

Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome

et al. 2001

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We describe a patient with type I diabetes, clinical findings consistent with velocardiofacial syndrome, and a chromosome 22q11.2 deletion. A nine-year-old boy presented with a history of polyuria, polydipsia, weight loss, hyperglycemia, ketosis, serum insulin antibodies, and a low C-peptide level. He had distinctive facial features, learning disabilities, short stature, and a history of glottic web and clubfoot. Although a normal karyotype was obtained, fluorescence in situ hybridization (FISH) revealed a submicroscopic deletion in the DiGeorge/velocardiofacial syndrome critical region at 22q11.2. His maternal half-brother also carried a chromosome 22q11.2 deletion. His mother has similar facial features and hypoparathyroidism. Autoimmune problems associated with chromosome 22q11.2 deletions have been reported. We suggest that the defects in immune regulation due to T-cell deficiency in chromosome 22q11.2 deletion syndrome may predispose to autoimmune disorders, including type I diabetes mellitus.

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Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity

Cited by 30 publications

References 10 publications

Phenotype of adults with the 22q11 deletion syndrome: A review

Phenotype of adults with the 22q11 deletion syndrome: A review

Association of tetralogy of Fallot with a distinct region of del22q11.2

Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome

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