Congenital anomalies including the VATER association in a patient with a del(6)q deletion

McNeal, R.M.; Skoglund, R.R.; Francke, Uta

doi:10.1016/s0022-3476(77)80903-7

Cited by 63 publications

(48 citation statements)

References 8 publications

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“…In accordance with this, previous studies have identified several de novo chromosomal microaberrations, which are likely to be disease causing. [5][6][7][8][9][10][11][12][13][14][15][16] However, none of these de novo chromosomal microaberrations has led to the identification of a disease-causing gene and the etiology in most cases is still unknown.…”

Section: Introductionmentioning

confidence: 99%

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

et al. 2013

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Section: Introductionmentioning

confidence: 99%

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

et al. 2013

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“…We performed a literature review of clinical findings of proximal 6q deletion cases overlapping with our case [McNeal et al, 1977;Young et al, 1985;Yamamoto et al, 1986;Lonardo et al, 1988;Slater et al, 1988;Turleau et al, 1988;Valtat et al, 1992;Gershoni-Baruch et al, 1996;Romie et al, 1996;Hopkin et al, 1997;Kumar et al, 1997;Myers and Challman, 2005;Lespinasse et al, 2009;Van Esch et al, 2010;Wentzel et al, 2010;Woo et al, 2010;Becker et al, 2012;Quintela et al, 2015;Duarte et al, 2016]. In the majority of the cases, developmental delay and craniofacial features were common and variable.…”

Section: Discussionmentioning

confidence: 62%

Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

Catena¹,

Aracena²,

Pizarro³

et al. 2017

Mol Syndromol

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Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted. His clinical evolution has been marked by failure to thrive, severe developmental delay, and cognitive impairment. The diagnosis of Toriello-Carey syndrome (TCS) was based on his “gestalt.” aCGH identified a de novo proximal deletion of 17 Mb in 6q (6q12q14.3). Deletion 6q13q14 seems to be responsible for the main facial features and should be considered within the differential diagnosis of TCS.

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“…in Table 1 [6][7][8][9][10][11][12][13][14][15]. Facial dysmorphism was observed in all patients, indicating that facial changes are diagnostic.…”

Section: Discussionmentioning

confidence: 99%

A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization

Woo

Kim

et al. 2010

Ann Lab Med

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Deletions of the long arm of chromosome 6 are relatively rare. To date, only one case with a deletion of the long arm of chromosome 6 has been identified through standard cytogenetic analyses in Korean patients [1]. The clinical features of 6q deletions, including facial dysmorphism, mental retardation, developmental delay, and defects of the brain, heart, lungs, bones, and joints, vary with the size and location of the deleted regions [2]. Here, we report a case of interstitial 6q deletion associated with facial and skeletal anomalies, umbilical hernia, and brain defects in a female infant. The location of the chromosomal breakpoints and the size of the deleted region, previously identified by routine cytogenetics, which have limited resolution, could be confirmed using the array comparative genomic hybridization (array CGH) method that facilitates high-resolution analysis of chromosomal aneuploidy. CASE REPORTThe female infant was the product of the first pregnancy of a 22-yr-old woman. She was born vaginally at the 38th week and 4th day of gestation with a birth weight of 2,400 g. Details of birth head circumference and length are, however, not available. Apgar scores were 5 and 7 at 1 and 5 min, respectively. The patient had a cleft palate and sucking difficulties. Physical examination revealed a flat face, low-set ears, dislocation of both hips, and a small umbilical hernia. Brain MRI showed porencephaly of the basal ganglia and thalamus, cerebromalacia, petechial hemorrhage along the gyrus and parietal area, and brain atro- 84Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16. 2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature. (Korean J Lab Med 2010;30:84-8)

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Congenital anomalies including the VATER association in a patient with a del(6)q deletion

Cited by 63 publications

References 8 publications

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization

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