PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME

Davidson, Alexander; Khandelwal, Meena; Punnett, Hope H.

doi:10.1002/(sici)1097-0223(199704)17:4<380::aid-pd61>3.0.co;2-j

Cited by 22 publications

(6 citation statements)

References 14 publications

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“…In familial 22q11.2 deletions, IAA in sibs was reported once from a mother with deletion but without CHD [Desmaze et al, 1993]. In nine further families, one child had IAA, and in two families the sibs and in two the affected parent had different conotruncal malformations [Davidson et al, 1997;Desmaze et al, 1993;Digilio et al, 1997b;Leana-Cox et al, 1996;Lindsay et al, 1995;Puder et al, 1994;Wilson et al, 1991Wilson et al, , 1992. In one 22q11.2 deletion family, one child had the maternally inherited deletion and IAA type B, whereas the sister only had atrial septal defect without 22q11.2 deletion [De Silva et al, 1995].…”

Section: Recurrence Riskmentioning

confidence: 99%

“…If IAA is associated with de novo 22q11.2 deletion, recurrence risk may be considered low. On the other hand, in familial deletions, CHD occurred in 72% of offspring of parents without CHD and in 83% of those from parents with CHD [Davidson et al, 1997;Devriendt et al, 1997;Digilio et al, 1997b;Leana-Cox et al, 1996;Ravnan et al, 1996]. Risk assessment in IAA not related to 22q11.2 remains difficult, but 2% according to multifactorial inheritance may be suggested if there is no evidence of another genetic syndrome.…”

Section: Recurrence Riskmentioning

confidence: 99%

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Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

et al. 1998

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Interruption of the aortic arch (IAA) is a severe malformation of the heart with known association to DiGeorge syndrome (DGS) and 22q11.2 hemizygosity. The aim of this study was to establish incidence and significance of 22q11.2 hemizygosity in an unbiased sample of patients with IAA. All 15 children with IAA who were referred to our hospital in a 3-year period were tested by chromosome and fluorescence in situ hybridization (FISH) analysis with the probes D22S75, Tuplel, and cHKAD26 and by a set of 10 simple tandem repeat polymorphic (STRP) markers. In nine of 11 children with IAA type B, 22q11.2 hemizygosity was demonstrated by FISH and STRP analysis, but in none of the four children with type A. In all but one child, deletion size was approximately 3 Mb. The girl with the smaller deletion of approximately 1.5 Mb differed because of an Ullrich-Turner syndrome-like phenotype and severe T-cell defect. Additionally, in one patient with phenotypic signs of DGS, a small deletion distal to the known DGS region containing the marker D22S308 was suspected by STRP analysis. One deletion was shown to be inherited from a healthy father and one IAA type A recurred in a sib. T-cell anomalies were evident in eight of the nine children with classical deletion, five of whom suffered also from hypoparathyroidism. With respect to cause and clinical course, IAA type A and B were shown to represent different entities. This study showed that variable symptoms of 22q11.2 hemizygosity may cluster.

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Section: Recurrence Riskmentioning

confidence: 99%

Section: Recurrence Riskmentioning

confidence: 99%

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

et al. 1998

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“…Once classified as separate syndromes with overlapping features (DiGeorge, velocardiofacial, Shprintzen), a variety of conditions have been determined to result from the same chromosomal alteration. 3 The clinical features associated with 22q11.2 deletion include conotruncal cardiac defects, thymic hypoplasia, cleft palate, hypocalcemia, learning difficulties, and abnormal faces characterized by retrognathia, a prominent nose with a squared nasal root, a deficient malar area, and a long face. More importantly, however, this syndrome accounts for 5-30% of all congenital heart defects.…”

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confidence: 99%

Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect

Manji

Roberson

Wiktor

et al. 2001

Genetics in Medicine

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Purpose: The incidence of 22q11.2 deletion syndrome is approximately 1 in 5,000 births, and accounts for 5-30% of all heart defects, making it one of the more common genetic conditions in the population. Methods: We employed fluorescence in situ hybridization (FISH) to study the incidence of 22q11.2 deletions in fetuses with cardiac anomalies detected on ultrasound examination. Results: Of 64 cases, 18 had visible chromosome anomalies. FISH testing for 22q11.2 deletion was performed on the remaining 46 cases, and five exhibited a 22q11.2 deletion. Three of the five had de novo deletions, one was maternally inherited, and one family declined testing. Conclusion: FISH analysis for 22q11.2 deletion should be performed on all fetuses with cardiac defects (excluding hypoplastic left heart and echogenic focus) and a normal G-banded karyotype. Genetics in Medicine, 2001:3(1):65-66.Key Words: chromosome deletion, 22q11.2 deletion syndrome, prenatal diagnosis, cytogenetics, heart defect Studies of liveborn infants suggest that the 22q11.2 deletion syndrome occurs in approximately 1 per 5,000 births. 1,2 Most cases are sporadic, though familial cases have been reported. Once classified as separate syndromes with overlapping features (DiGeorge, velocardiofacial, Shprintzen), a variety of conditions have been determined to result from the same chromosomal alteration. 3 The clinical features associated with 22q11.2 deletion include conotruncal cardiac defects, thymic hypoplasia, cleft palate, hypocalcemia, learning difficulties, and abnormal faces characterized by retrognathia, a prominent nose with a squared nasal root, a deficient malar area, and a long face. More importantly, however, this syndrome accounts for 5-30% of all congenital heart defects. 1,4 Because of the neonatal morbidity related to congenital heart defects, prenatal diagnosis of this syndrome has significant implications for the care of the infant and genetic counseling of the family.Prenatal diagnosis is possible through the use of fluorescence in situ hybridization (FISH) studies. While there have been several reports in the literature of prenatal diagnosis of 22q11.2 deletion, there are little data addressing the incidence of the deletion among individuals with cardiac defects detected on prenatal ultrasound. One study identified a 22q11.2 deletion in 3 of 26 (11.5%) pregnancies with a cardiac defect on fetal ultrasound and a negative family history. 5 We report here the results of a study to examine the incidence of 22q11.2 deletion in pregnancies in which congenital heart defects were identified by ultrasound examination. PATIENTS AND METHODSThe objective of this study was to investigate the incidence of 22q11.2 deletion syndrome in fetuses with cardiac anomalies noted on ultrasound, noncontributory family history, and normal karyotype. All cases referred to our laboratory from January of 1997 to May of 2000 were included.If the request form for prenatal diagnosis noted a heart defect, the case was included in the study. The exceptions were hypoplas...

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“…Very few data are available concerning the prognosis for fetuses diagnosed prenatally as having a 22q11 deletion. Prenatal diagnosis of 22q11 deletion was reported in a fetus with a known affected sister and father (24), in a fetus of a patient with the deletion and velocardiofacial syndrome (13), in a fetus of a mother with congenital heart disease (25), and in a fetus with interrupted aortic arch type B (26). The discovery of a conotruncal heart defect associated with a 22q11 deletion during pregnancy might indicate a severe form of this syndrome, which is known to show a great phenotypic variability.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion

Min

Lee

et al. 2002

J Korean Med Sci

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Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal microdeletion. These findings suggest the importance of performing FISH in pregnancies with prenatally detected tetralogy of Fallot.

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PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME

Cited by 22 publications

References 14 publications

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect

Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion

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