DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

DeBerardinis, Ralph J.; Medne, Līvija; Spinner, Nancy B.; Zackai, Elaine H.

doi:10.1002/ajmg.a.30913

Cited by 6 publications

(4 citation statements)

References 37 publications

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“…Thymus abnormalities, both aplasia and hypoplasia, have been infrequently reported in association with PGDM. All cases have had MCA and several have been categorized as DiGeorge syndrome [Black et al, 1975; Gosseye et al, 1982; Wilson et al, 1993; Novak and Robinson, 1994; Digilio et al, 1995; DeBerardinis et al, 2005]. Rope et al 2003, in a retrospective review of 14 cases of DiGeorge without deletion 22q11.2, found three infants whose mothers had DM.…”

Section: Discussionmentioning

confidence: 99%

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

Frías

et al. 2007

American J of Med Genetics Pt A

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The aim of this study was to identify congenital anomalies (CA) among infants of women with diabetes mellitus (DM) that, even though infrequent or infrequently reported, may suggest diabetic teratogenesis. Using 1976-2005 data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), we compared the frequency of selected CA among 130 infants with CA born to women with pregestational DM (PGDM) and 30,009 infants with CA whose mothers had normal glucose tolerance (NGT). To identify which CA were not only significantly more frequent among infants of mothers with PGDM, but also more specific, we calculated the quotient of their frequencies (frequency ratio: FR). The same analysis was made using data from 927 infants of mothers with gestational DM (GDM). Among the studied defects, several were statistically significantly more frequent among infants of PGDM mothers than among infants of mothers with NGT, although the specificity of their association with DM varied, as indicated by the values of the FR. These included: anorectal atresia/stenosis (FR = 2.81; P = 0.03), hallucal polydactyly (FR = 3.62; P = 0.002), heterotaxy (FR = 5.70; P = 0.049), hypertrophic cardiomyopathy (HCM) (FR = 61.60; P = 0.000000), multicystic dysplastic kidneys (MDK) (FR = 5.13; P = 0.0002), and thymus aplasia/hypoplasia (FR = 29.62; P = 0.000001). The only CA significantly more frequent among infants of women with GDM were HCM (FR = 8.60; P = 0.002) and MDK (FR = 1.80; P = 0.01). Our results suggest that maternal PGDM should be suspected in children with hallucal polydactyly, anorectal atresia/stenosis, heterotaxy, or aplasia/hypoplasia of the thymus. The presence of transient HCM or MDK in a newborn suggests maternal PGDM or GDM. These observations are important in view of the increasing worldwide frequency of DM and the high proportion of individuals with DM in whom the condition remains undiagnosed. (c) 2007 Wiley-Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

Frías

et al. 2007

American J of Med Genetics Pt A

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“… Abeliovich et al 1993, Back et al 1994, Bakshi et al 2006, Balicek et al 1976, Balkan et al 2009, Batista et al 1983, Blennow and Nielson 1991, Blennow et al 1995, Boyle et al 2001, Bugge et al 1996, Callen et al 1990, Cote et al 1979, Condron et al 1974, DeBerardinis et al 2005, Eggermann et al 1997, Esmer et al 1994, Fryns et al 1985, 1990, Kleckzkowska et al 1986, Kotzot et al 1996, Mewar et al 1993, Nielsen et al 1978, Ogata et al 1977, Park et al 1991, Ramegowda et al 2006, Rauch et al 1992, Rivera et al 1984, Rocchi et al 1979, Singer et al 1990, Swingle et al 2006, Takeda et al 1989, Tangheroni et al 1973, Taylor et al 1975. …”

Section: Introductionmentioning

confidence: 99%

Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

Sebold

Roeder

Zimmerman

et al. 2010

American J of Med Genetics Pt A

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Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. The medical records of 42 of these 43 individuals were reviewed. In order to gain additional phenotypic data, 31 individuals with tetrasomy 18p underwent a series of clinical evaluations at the Chromosome 18 Clinical Research Center. Results from the molecular analysis indicated that 42 of 43 samples analyzed had 4 copies of the entire p arm of chromosome 18; one individual was also trisomic for a section of proximal 18q. The results of the medical records review and clinical evaluations expand the phenotypic description of tetrasomy 18p to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies. Additional findings identified in a small number of individuals include hernias, myelomeningocele, kidney defects, short stature, and failure to respond to growth hormone stimulation testing. Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested.

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“…(34,43) Apart from the classic 22q11.2 deletion, other chromosomal abnormalities associated with DGS include deletion at 10p13, 17p13, 4q34, and 3p12.3. (34,44,45) DGS caused by heterozygous chromosomal microdeletion at 10p14-p13 is also referred to as DGS type 2 (DGS2) characterized by the classic DGS presentation, including cardiac defect and hypoplastic thymus. Microdeletion on a more distal locus 10p14-10pter contributes to HDR syndrome, thus interconnecting the two syndromic disorders (46) (see below).…”

Section: Q112 Deletion Syndrome (22q11ds)mentioning

confidence: 99%

Hypoparathyroidism: Genetics and Diagnosis

Mannstadt

Cianferotti

Gafni

et al. 2020

Journal of Bone and Mineral Research

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This narrative report summarizes diagnostic criteria for hypoparathyroidism and describes the clinical presentation and underlying genetic causes of the nonsurgical forms. We conducted a comprehensive literature search from January 2000 to January 2021 and included landmark articles before 2000, presenting a comprehensive update of these topics and suggesting a research agenda to improve diagnosis and, eventually, the prognosis of the disease. Hypoparathyroidism, which is characterized by insufficient secretion of parathyroid hormone (PTH) leading to hypocalcemia, is diagnosed on biochemical grounds. Low albumin‐adjusted calcium or ionized calcium with concurrent inappropriately low serum PTH concentration are the hallmarks of the disease. In this review, we discuss the characteristics and pitfalls in measuring calcium and PTH. We also undertook a systematic review addressing the utility of measuring calcium and PTH within 24 hours after total thyroidectomy to predict long‐term hypoparathyroidism. A summary of the findings is presented here; results of the detailed systematic review are published separately in this issue of JBMR. Several genetic disorders can present with hypoparathyroidism, either as an isolated disease or as part of a syndrome. A positive family history and, in the case of complex diseases, characteristic comorbidities raise the clinical suspicion of a genetic disorder. In addition to these disorders' phenotypic characteristics, which include autoimmune diseases, we discuss approaches for the genetic diagnosis. © 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).

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DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

Cited by 6 publications

References 37 publications

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

Hypoparathyroidism: Genetics and Diagnosis

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