De novo 16p deletion: ATR-16 syndrome

Lindor, Noralane M.; Valdes, Maria G.; Wick, Myra J.; Thibodeau, Stephen N.; Jalal, Syed M.

doi:10.1002/(sici)1096-8628(19971112)72:4<451::aid-ajmg15>3.0.co;2-q

Cited by 20 publications

(13 citation statements)

References 9 publications

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“…4 10 11 At present, only terminal deletions of the short arm of chromosome 16 have been described and are associated with the ATR syndrome (α thalassaemiaretardation-16). [5][6][7] The present report is the first published case to correlate congenital malformations with an interstitial chromosome deletion of 16p11.2, probably because G banding often does not easily identify this chromosome aberration.…”

Section: Discussionmentioning

confidence: 85%

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Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

Hernándo¹,

Plaja²,

Rigola³

et al. 2002

Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 85%

“…So far, only the ATR-16 syndrome (α thalassaemiaretardation-16) associated with 16p13.3 deletion has been described. [5][6][7] Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. Here we describe multiple congenital malformations associated with a de novo interstitial chromosome deletion 16p11.2 confirmed by CGH.…”

mentioning

confidence: 99%

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

Hernándo¹,

Plaja²,

Rigola³

et al. 2002

Journal of Medical Genetics

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“…Whether deletion of the SOX8 gene is critical to the phenotype remains to be proven—patients with isolated, inactivating mutations of SOX8 have yet to be described. Full‐scale IQs reported in the literature for people with ATR‐16 vary from 53 to 76, according to the summary of four patients provided by Lindor et al [1997]. Our patient's current level of cognitive functioning has been classified as “mild delay” accompanied by adaptive skills in the lower end of the “mild” deficit range.…”

Section: Discussionmentioning

confidence: 99%

Phenotype–genotype characterization of alpha‐thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

Gibson

Harvard

Qiao

et al. 2007

American J of Med Genetics Pt A

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An 8-year-old Caucasian girl presented with mild dysmorphic features and intellectual disability (ID) affecting multiple spheres. Dysmorphisms included a high forehead with up-slanting palpebral fissures, prominent nasal root and bridge, flattened maxilla, high-arched palate, and anterior frenulum. Structural brain anomalies included reduced periventricular white matter volume and thin corpus callosum. The presence of HbH bodies and her clinical presentation raised suspicion for autosomal alpha-thalassemia mental retardation syndrome (ATR-16). Whole-genome array analysis at 1 Mb resolution was performed, which revealed a sub-microscopic loss of 16p involving clones RP11-344L6 at 0.1 Mb, RP1-121I4 at 0.2 Mb and RP11-334D3 at 1 Mb. FISH confirmed deletion (del) of the terminal clone (RP1-121I4) on 16pter, which was de novo in origin. The more proximal clone RP11-334D3 (at 1 Mb) showed diminished FISH signal intensity on one of the homologues, suggesting that one breakpoint occurred within this clone. Quantitative PCR (qPCR) confirmed a de novo deletion encompassing SOX8 (at 0.97 Mb). ATR-16 is characterized by ID with mild, nonspecific dysmorphic features, and is associated with terminal del16p (MIM No. 141750). Cases of isolated monosomy for 16p are rarely described; such descriptions help to delineate the syndrome in the absence of confounding karyotypic anomalies. We describe detailed molecular cytogenetic and clinical findings relating to a subject with ATR-16.

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“…Mild to severe DD/MR, associated with hypotonia and variable signs of nonspecific developmental abnormalities, has been reported in individuals with either a de novo 16p deletion [Lindor et al, 1997] or a subtelomeric 16p deletion as a consequence of an inherited balanced cryptic subtelomeric translocation, t(3;16)(q29;p13.3), segregating in the family [Holinski‐Feder et al, 2000]. In the latter cases, the authors were able to uncover the etiology of DD/MR following a genome search (due to the large size of the family) and subsequent FISH analysis with subtelomeric 16p probes (extended cytogenetic analysis, including the use of high‐resolution karyotyping, multiplex (M‐) FISH, and DNA FraX, could not reveal the cause of DD/MR).…”

Section: Cytogenetics/molecular Cytogeneticsmentioning

confidence: 99%

Diagnostic evaluation of developmental delay/mental retardation: An overview

Battaglia

Carey

2003

American J of Med Genetics Pt C

120

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Mental retardation (MR) is one of the few clinically important disorders for which the etiopathogenesis is still poorly understood. It is a condition of great concern for public health and society. MR is currently defined as a significant impairment of cognitive and adaptive functions, with onset before age 18 years. It may become evident during infancy or early childhood as developmental delay (DD), but it is best diagnosed during the school years. MR is estimated to occur in 1–10% of the population, and research on its etiology has always been a challenge in medicine. The etiopathogenesis encompasses so many different entities that the attending physician can sometimes feel a “virtual panic,” starting a wide‐range diagnostic evaluation. The Consensus Conference of the American College of Medical Genetics has recently established guidelines regarding the evaluation of patients with MR [Curry et al., 1997], emphasizing the high diagnostic utility of cytogenetic studies and neuroimaging in certain clinical settings. However, since then there has been substantial progress in molecular cytogenetics and neuroimaging techniques, the use of which has allowed recognition and definition of new disorders, thus increasing the diagnostic yield. This review will focus on the most appropriate investigations shown to be, at present, necessary to define the etiology of DD/MR, in the context of recommendations for the clinical evaluation of the patient with undiagnosed MR. © 2003 Wiley‐Liss, Inc.

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De novo 16p deletion: ATR-16 syndrome

Cited by 20 publications

References 9 publications

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

Phenotype–genotype characterization of alpha‐thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

Diagnostic evaluation of developmental delay/mental retardation: An overview

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