Prenatal detection of deletion 6q13q15 in a complex karyotype

Yu, Min; O'Bringer, Angela; Fowler, Melissa H.; Hummel, Marybeth; Wenger, Sharon L.

doi:10.1002/pd.1265

Cited by 9 publications

(11 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Similar urogenital anomalies have been reported previously; ectopic kidney in three patients [McNeal et al, 1977;Yamamoto et al, 1986;GershoniBaruch et al, 1996], distention of the renal pelvis in one [Yu et al, 2005], and vesicoureteral reflux in two [McNeal et al, 1977;Romie et al, 1996]. Other authors have not recorded this aspect of the syndrome.…”

Section: Phenotype Of 6q11-q14 Interstitial Deletionssupporting

confidence: 72%

“…However, less than 30% of our patients had other typical features such as epicanthic folds, hypertelorism, short nose, broad nasal tip, long philtrum, thin upper lip, strabismus, short neck, and scoliosis, which are shared by over 50% of previously reported patients [Kumar et al, 1997;Yu et al, 2005].…”

Section: Phenotype Of 6q11-q14 Interstitial Deletionsmentioning

confidence: 77%

“…Interstitial deletions in the proximal region of the long arm of chromosome 6 (6q11-q16) were reported in less than 20 patients [Hopkin et al, 1997;Schinzel, 2001;Yu et al, 2005]. Interstitial deletions of 6q11-q15 were identified in two patients [Slater et al, 1988;Romie et al, 1996], 6q12-q14 in one [Lonardo et al, 1988], 6q13-q14.2 in two [Hopkin et al, 1997;Kumar et al, 1997], 6q13-q15 in six [McNeal et al, 1977;Young et al, 1985;Yamamoto et al, 1986;Rose et al, 1992;Gershoni-Baruch et al, 1996;Yu et al, 2005], and 6q14-q16 in four [Turleau et al, 1988;Valtat et al, 1992;Roland et al, 1993].…”

Section: Introductionmentioning

confidence: 98%

“…Interstitial deletions of 6q11-q15 were identified in two patients [Slater et al, 1988;Romie et al, 1996], 6q12-q14 in one [Lonardo et al, 1988], 6q13-q14.2 in two [Hopkin et al, 1997;Kumar et al, 1997], 6q13-q15 in six [McNeal et al, 1977;Young et al, 1985;Yamamoto et al, 1986;Rose et al, 1992;Gershoni-Baruch et al, 1996;Yu et al, 2005], and 6q14-q16 in four [Turleau et al, 1988;Valtat et al, 1992;Roland et al, 1993]. The cardinal features observed in these patients include: upslanting palpebral fissures, epicanthic folds, hypertelorism, short nose, broad nasal tip, low set ears, umbilical hernia, hypotonia, and hypermobile joints [Hopkin et al, 1997;Kumar et al, 1997;Yu et al, 2005]. In contrast, patients with interstitial deletions that are overlapping with and distal to the 6q11-q16 region have a totally different phenotype.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients

Wang¹,

Dang²,

Lomax³

et al. 2009

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Interstitial deletions involving 6q11-q14 have been reported in less than 20 patients, with the breakpoints studied by G-banding alone. We report on seven patients with 6q11-q14 interstitial deletions of variable size. The breakpoints were studied by G-banding, dual-color BAC-FISH and SNP array. The results showed the molecular breakpoints differed significantly from the ones obtained from G-banding. The breakpoints studied by BAC-FISH were consistent with the ones from SNP array. Some characteristics from this cohort are consistent with previous reports, but many typical features are lacking in our patients. The cardinal features of 6q11-q14 interstitial deletions in this cohort include: umbilical hernia, hypotonia, short stature, characteristic facial features of upslanting palpebral fissures, low set and/or dysplastic ears, high arched palate, urinary tract anomalies, and skeletal/limb anomalies.

show abstract

Section: Phenotype Of 6q11-q14 Interstitial Deletionssupporting

confidence: 72%

Section: Phenotype Of 6q11-q14 Interstitial Deletionsmentioning

confidence: 77%

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients

Wang¹,

Dang²,

Lomax³

et al. 2009

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…However, in the patients reported in the literature, including the Korean case, most of cytogenetic studies on 6q deletion have been performed using conventional techniques only, which have limited resolution [1,2,5,[17][18][19][20][21].…”

Section: Discussionmentioning

confidence: 99%

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

Woo

Kim

et al. 2010

Ann Lab Med

View full text Add to dashboard Cite

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)

show abstract

Guidance of neurite outgrowth on aligned electrospun polypyrrole/poly(styrene‐β‐isobutylene‐β‐styrene) fiber platforms

Liu

Chen

Gilmore

et al. 2010

J Biomedical Materials Res

View full text Add to dashboard Cite

The purpose of this work was to investigate the potential biomedical application of novel aligned electrospun polypyrrole (PPy)/poly(styrene-beta-isobutylene-beta-styrene) (SIBS) fibers. After successfully aligning the electroactive PPy/SIBS fibers based on our modified electrospinning method, we demonstrated that neurite outgrowth from PC12 cells could be highly orientated parallel to the aligned PPy/SIBS fibers. Physical interactions between the nerve cells and PPy/SIBS fibers through filopodia "sensing" were observed using atomic force microscopy. These observations indicate a role of contact guidance as a mechanism for the observed alignment. This work highlights the capacity for electroactive PPy/SIBS fibers to support and guide nerve cell differentiation through topographic cues, which is a highly desirable characteristic in medical implants for neurological applications.

show abstract

Prenatal detection of deletion 6q13q15 in a complex karyotype

Cited by 9 publications

References 10 publications

Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients

Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients

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

Guidance of neurite outgrowth on aligned electrospun polypyrrole/poly(styrene‐β‐isobutylene‐β‐styrene) fiber platforms

Contact Info

Product

Resources

About