Bilateral Perisylvian Polymicrogyria and Chromosome 1 Anomaly

Ribeiro, Maria do CÃ©u; Sousa, Susana Gama de; Freitas, Manuela Mota; Carrilho, I; Fernandes, Isilda

doi:10.1016/j.pediatrneurol.2007.01.015

Cited by 13 publications

(6 citation statements)

References 6 publications

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“…Previous mapping studies defined critical regions for hearing loss, moderate to severe mental retardation (D1S243 to D1S468) and seizures [Shapira et al, 1999; Wu et al, 1999], while brain imaging studies typically show abnormal white matter signal, especially on Flair sequences. Autopsy in one patient included in our series confirmed PMG [Shapira et al, 1999], as did a recent report of another patient [Ribeiro Mdo et al, 2007]. Our genotype–phenotype analysis revealed brain abnormalities on MRI in 60% of patients with deletion 1p36, with patchy signal abnormalities in white matter (leukoencephalopathy) and PMG being the most common (unpublished data).…”

Section: Discussionsupporting

confidence: 84%

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

Dobyns

Mirzaa

Christian

et al. 2008

American J of Med Genetics Pt A

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Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new

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Section: Discussionsupporting

confidence: 84%

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

Dobyns

Mirzaa

Christian

et al. 2008

American J of Med Genetics Pt A

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“…Although polymicrogyria seems to be an occasional malformation in monosomy 1p36 (4/9 in unpublished data by Dobyns [Robin et al, 2006]; 10/50 in a review by Gajecka et al 2007), neither detailed clinical reports nor deletion mapping of these cases have been published. Ribeiro et al 2007 reported on a girl with bilateral symmetrical perisylvian polymicrogyria and a terminal deletion of 1p accompanied by a terminal duplication of 1q designated as 46,XX,der(1)(qter → p36.13::q42.3 → qter) (Fig. 3).…”

Section: Discussionmentioning

confidence: 99%

“…The black areas denote the monosomic regions and the white areas the disomic regions. The gray areas denote the dosage unknown regions where the breakpoints should exist [Shapira et al, 1997; Heilstedt et al, 2003b; Kurosawa et al, 2005; Neal et al, 2006; Ribeiro et al, 2007; Thienpont et al, 2007; Dobyns et al, 2008]. BPP, bilateral perisylvian polymicrogyria; PNH, periventricular nodular heterotopia; LVNC, left ventricular noncompaction; DCM, dilated cardiomyopathy; M1p36, monosomy 1p36.…”

Section: Molecular Cytogenetic Investigationsmentioning

confidence: 99%

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36

Saito

Kawamura

Kosho

et al. 2008

American J of Med Genetics Pt A

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Monosomy 1p36 is a common subtelomeric microdeletion syndrome, characterized by craniofacial dysmorphisms, developmental delay, mental retardation, hypotonia, epilepsy, cardiovascular complications, and hearing impairment; deleted regions have been mapped within 10.0 Mb from the telomere in most documented cases. We report on a girl with a 10.5-11.1 Mb terminal deletion of 1p36 shown by fluorescence in situ hybridization (FISH). She had three distinct structural abnormalities: bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction. She died in early infancy with intractable epilepsy, progressive congestive heart failure and pulmonary hypertension. To date, this is the first case with monosomy 1p36, complicated by this combination of manifestations; she is also the first who had possibly a simple terminal deletion of 1p36 and died in early infancy. An atypically large deletion in this patient might be the basis for the development of these features and the severe clinical course.

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“…39,[42][43][44] However, deletions over 11-16 Mb may be lethal. 36,37 As in our case, unbalanced segregants that result in double segment imbalances will impact the survival rate and is dependent on the size of the two segments and genetic content.…”

Section: Discussionmentioning

confidence: 58%

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

et al. 2014

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Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pregnancy outcomes. Submicroscopic molecular characterization by fluorescent in situ hybridization (FISH) of RCT break points in representative carriers showed similar rearrangements in both families. Meiotic segregation patterns after sperm analysis by three-color FISH of one male carrier showed all possible outcomes resulting from 2:2 and 3:1 segregations. On the basis of empirical survival data, we suggest that only one form of chromosome imbalance resulting in monosomy 1p36.22→pter with trisomy 11q12.2→qter may be observed in progeny at birth. Segregation analysis of these pedigrees was performed by the indirect method of Stengel-Rutkowski and showed that probability rate for malformed child at birth due to an unbalanced karyotype was 3/48 (6.2±3.5%) after ascertainment correction. The risk for stillbirths/early neonatal deaths was -/48 (<1.1%) and for miscarriages was 17/48 (35.4±6.9%). However, the probability rate for children with a normal phenotype at birth was 28/48 (58.3±7.1%). The results obtained from this study may be used to determine the risks for the various pregnancy outcomes for carriers of t(1;11)(p36.22;q12.2) and can be used for genetic counseling of carriers of this rearrangement.

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Bilateral Perisylvian Polymicrogyria and Chromosome 1 Anomaly

Cited by 13 publications

References 6 publications

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

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