The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients

McDonald‐McGinn, Donna M.; LaRossa, Don; Goldmuntz, Elizabeth; Sullivan, Kathleen E.; Eicher, Peggy S.; Gerdes, Marsha; Moss, Edward; Wang, Paul; Solot, Cynthia; Schultz, Patricia; Lynch, David R.; Bingham, Peter M.; Keenan, Gregory F.; Weinzimer, Stuart A.; Ming, Jeffrey E.; Driscoll, Deborah A.; Clark, Bernard J.; Markowitz, Richard I.; Cohen, Alan R.; Moshang, Thomas; Pasquariello, Patrick S.; Randall, Peter; Emanuel, Beverly S.; Zackai, Elaine H.

doi:10.1089/gte.1997.1.99

Cited by 174 publications

(122 citation statements)

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“…This was not done in our study. McDonald-McGinn et al reported hypocalcemia in 77 of 158 (49%) patients with a confirmed del(22)(q11) (14). In a large European cohort, 60% of patients were hypocalcemic (6).…”

Section: Discussionmentioning

confidence: 99%

“…Recurrence of hypoparathyroidism may be precipitated during periods of increased metabolic demand such as cardiopulmonary bypass (18). The del(22)(q11) typically occurs de novo, although it is inherited in about 10-20% of cases with a marked excess of maternally inherited deletions (14). Even within one kindred family, the phenotypic variability including that of parathyroid gland dysfunction, may be as marked as between unrelated individuals (8).…”

Section: Discussionmentioning

confidence: 99%

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The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

Hiéronimus¹,

Bec-Roche²,

Pédeutour

et al. 2006

eur j endocrinol

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Objective: Clinical features associated with microdeletion of chromosome 22q11 (del(22)(q11)) are highly variable. Increased awareness of this condition is needed among specialists such as endocrinologists to reduce diagnostic delay and improve clinical care. The purpose of this study was to describe the phenotype of patients with del(22)(q11), focusing on parathyroid gland dysfunction. Design and methods: Charts of 19 patients, including one kindred of three, known to have del (22)(q11) diagnosed by fluorescence in situ hybridization (FISH) were reviewed from the register of the department of Medical Genetics. Major clinical features including hypoparathyroidism phenotype were collected. Results: Parathyroid dysfunction was present in 8 out of 16 patients (50%). Six patients were diagnosed with overt hypoparathyroidism. Hypocalcemia manifested as laryngeal stridor within the first days of life (nZ3), seizures in infancy (nZ1) and adolescence (nZ2). The connection between hypoparathyroidism and diagnosis of del(22)(q11) was belated at the median age of 18 years. One patient had presented with transient neonatal hypoparathyroidism, and one patient had latent hypoparathyroidism. Within the kindred family, the phenotype variability including that of parathyroid dysfunction was as marked as between unrelated individuals. Standard karyotype failed to detect the deletion in 15 out of 19 cases. Conclusions: Abnormal parathyroid function in the del(22)(q11) ranges from severe neonatal hypocalcemia to latent hypoparathyroidism. Del(22)(q11) should be considered as a potential cause of hypocalcemia even in young adult. When suspected, the diagnosis requires investigation by FISH. Furthermore, long-term calcemia follow-up is needed in normocalcemic patients with del(22)(q11) because of the possible evolution to hypocalcemic hypoparathyroidism.European Journal of Endocrinology 155 47-52

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

Hiéronimus¹,

Bec-Roche²,

Pédeutour

et al. 2006

eur j endocrinol

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“…1,2 Cognitive deficits are seen in the majority (80-100%) of individuals with 22q11DS 3 with impairments in sustained attention, executive function, memory, visual-spatial perception, [4][5][6] along with anxiety disorders, attention deficit disorder and poor social skills (40-50%). [7][8][9] A uniquely elevated risk of schizophrenia spectrum disorders (25%), bipolar disorder (B5%) and major depression (B10%) occurs in adolescence and young adulthood.…”

Section: Introductionmentioning

confidence: 99%

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

et al. 2012

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Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with neurocognitive impairments. The neural substrates of cognitive impairments in 22q11DS remain poorly understood. Because the corpus callosum (CC) is found to be abnormal in a variety of neurodevelopmental disorders, we obtained volumetric measurements of the CC and its subregions, examined the relationship between these regions and neurocognition and selected genotypes within candidate genes in the 22q11.2 interval in 59 children with 22q11DS and 53 control subjects. The total CC, splenium and genu were significantly larger in children with 22q11DS and the enlargement was associated with better neurocognitive functioning in the 22q11DS group, suggestive of a compensatory increase in the CC volumes. The expected age-related increase in the volume of the CC was not seen in children with 22q11DS, indicative of dysmaturation of the CC in these children. The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). These findings indicate that alterations in the CC volume in children with 22q11DS are associated with cognition and specific genotypes in the 22q11.2 interval.

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“…DiGeorge syndrome, 1,2 velocardiofacial syndrome (VCFS), 3 and conotruncal anomaly face syndromes, 4 and some patients with autosomal dominant Opitz G/BBB syndrome, 5,6 isolated conotruncal cardiac anomalies, 7 and Cayler cardiofacial syndrome 8 have been associated with the 22q11.2 deletion. The pattern of physical findings associated with the 22q11.2 deletion varies from patient to patient 9 and includes a conotruncal cardiac defect, palatal anomalies such as an overt cleft palate or velopharyngeal incompetence, thymic aplasia, or hypoplasia, T-cell abnormalities, and minor facial anomalies. These signs are now widely recognized.…”

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confidence: 99%

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Gerdes

Solot

Wang

et al. 2001

Genetics in Medicine

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Purpose: The purpose of this study is to review the neurodevelopmental outcome of infants and preschoolers with a 22q11.2 microdeletion and to discuss the our clinical observations of clinical implications for educational and therapeutic interventions. Methods: One hundred twelve children (4 to 70 mos) with the 22q11.2 deletion were assessed using standardized tests (Bayley Scales of Infant Development-II, Preschool Language Scales, WechslerPreschool and Primary Scales of Intelligence-Revised). Results: Fifty-four percent of the children were significantly delayed, 24% had mild delay, 22% had average cognitive development, and 80% were below average in language development. Delays are not explained by cardiac defects or palatal defects. Conclusion: Developmental delays, mild hypotonia, language and speech delays, and feeding disorders are common, and this finding indicates the need for early intervention services beginning in infancy for children with the 22q11.2 deletion. Genetics in Medicine, 2001:3(1):40 -44.

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The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients

Cited by 174 publications

References 44 publications

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

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