Monosomy 6q1: Syndrome delineation

Romie, Susan; Hartsfield, James K.; Sutcliffe, Maxine J.; Dumont, Doris P.; Kousseff, Boris G.

doi:10.1002/(sici)1096-8628(19960315)62:2<105::aid-ajmg1>3.0.co;2-v

Cited by 10 publications

(1 citation statement)

References 13 publications

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“…Within this large group of non-isolated ARM individuals, the majority presented with normal neurocognitive development and without congenital anomalies of the CNS; some individuals also had impaired neurocognitive development and/or congenital anomalies of the CNS. Within this group, we identified 13 disease-causing CNVs with some of them previously reported in association with both ARM phenotypes and congenital anomalies of the CNS, e.g., 6q1 monosomy [30] or 22q11.2 deletion syndrome [25,[31][32][33][34]. This finding might be explained by the fact that ARM have been previously associated as part of the phenotypic spectrum in over 500 entries in the OMIM ® (Online Mendelian Inheritance in Man ® ) database (October 2020; 555 entries for anal atresia: https://www.omim.org/) suggesting: (i) ARM to be a common phenotypic feature of many genetic syndromes; and (ii) ARM are far more heterogeneous in origin than for example the BEEC.…”

Section: "Sense and Sensibility" For The Diagnostic And Scientific Application Of Array-based Molecular Karyotyping In Individuals With Bmentioning

confidence: 94%

Lessons Learned from CNV Analysis of Major Birth Defects

Hilger

Dworschak

Reutter

2020

IJMS

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The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in major birth defects suggest a significant fraction of mutational de novo events among the affected individuals. With the advent of systematic array-based molecular karyotyping, larger cohorts of affected individuals have been screened over the past decade. This review discusses the identification of disease-causing copy-number variations (CNVs) among individuals with different congenital malformations. It highlights the differences in findings depending on the respective congenital malformation. It looks at the differences in findings of CNV analysis in non-isolated complex congenital malformations, associated with central nervous system malformations or intellectual disabilities, compared to isolated single organ-system malformations. We propose that the more complex an organ system is, and the more genes involved during embryonic development, the more likely it is that mutational de novo events, comprising CNVs, will confer to the expression of birth defects of this organ system.

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Section: "Sense and Sensibility" For The Diagnostic And Scientific Application Of Array-based Molecular Karyotyping In Individuals With Bmentioning

confidence: 94%

Lessons Learned from CNV Analysis of Major Birth Defects

Hilger

Dworschak

Reutter

2020

IJMS

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New insights into the phenotypes of 6q deletions

Hopkin

Schorry²,

Bofinger³

et al. 1997

Am. J. Med. Genet.

103

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Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies. Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including truncus arteriosus and bilateral oligodactyly. Case 3 is a male with a terminal deletion [del(6)(q25.2)] with retinal pits, hydrocephalus, atrioventricular canal, and hydronephrosis. The findings in our patients and those from 57 previously reported cases demonstrated 3 phenotypic groups associated with 6q deletions. Group A [del(6)(q11-q16)] had a high incidence of hernias, upslanting palpebral fissures, and thin lips with lower frequency of microcephaly, micrognathia, and heart malformations. Group B [del(6)(q15-q25)] was associated with increased intrauterine growth retardation, abnormal respiration, hypertelorism, and upper limb malformations. Group C [del(6)(q25-qter)] was associated with retinal abnormalities, cleft palate, and genital hypoplasia. The only universal finding among all patients with 6q deletions was mental retardation. Other findings common to all 3 groups included ear anomalies (90%), hypotonia (82%), and postnatal growth retardation (68%).

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

Wang¹,

Dang²,

Lomax³

et al. 2009

American J of Med Genetics Pt A

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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.

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Monosomy 6q1: Syndrome delineation

Cited by 10 publications

References 13 publications

Lessons Learned from CNV Analysis of Major Birth Defects

Lessons Learned from CNV Analysis of Major Birth Defects

New insights into the phenotypes of 6q deletions

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

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