Chromosome 6q deletions: a report of two additional cases and a review of the literature.

Chromosome 6q deletions: a report of two additional cases and a review of the literature.

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http://www.wikidata.org/entity/Q38140621
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature reviewThe molecular genetics of the Ehlers-Danlos syndrome.Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with mental retardation: uses and limitations of fluorescence in situ hybridization.Deletion of the long arm of chromosome 6: report on a new case with intractable epilepsy.Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6.Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q.Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype.Sequential processing deficit as a shared persisting biomarker in dyslexia and childhood apraxia of speech.A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion.Prenatal findings and delineation ofde novoconcurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGH
P2860

Chromosome 6q deletions: a report of two additional cases and a review of the literature.

Item
http://www.wikidata.org/entity/Q38140621
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1990 nî lūn-bûn
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1990年の論文
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年學術文章
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1990年學術文章
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1990年學術文章
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name
Chromosome 6q deletions: a report of two additional cases and a review of the literature.
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type
label
Chromosome 6q deletions: a report of two additional cases and a review of the literature.
@en
prefLabel
Chromosome 6q deletions: a report of two additional cases and a review of the literature.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Chromosome 6q deletions: a report of two additional cases and a review of the literature.
@en
P2093
P304
P31
P356
P433
P478
P577
P698