Cryptic translocation t(5;18) in familial mental retardation

Vogels, Annick; Devriendt, Koen; Vermeesch, Joris Robert; Dael, Roeland Van; Marynen, Peter; Dewaele, Paul; Hageman, Jozef; Holvoet, Maureen

doi:10.1016/s0003-3995(00)01024-8

Cited by 10 publications

(7 citation statements)

References 7 publications

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“…However, frequent spontaneous abortions and stillbirths in our family suggest the possibility of a parental balanced cryptic translocation; increased rates of spontaneous abortion have been reported in several familial cases of subtelomeric chromosome aberrations [Fritz et al, 2000;Vogels et al, 2000;Warburton et al, 2000].…”

Section: Discussionmentioning

confidence: 64%

Further case of Cantú syndrome: Exclusion of cryptic subtelomeric chromosome aberrations

et al. 2002

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Cantú syndrome consists of hypertrichosis, osteochondrodysplasia, and cardiomegaly, and has been reported in 18 patients to date. We report an infant with Cantú syndrome. In addition to typical findings, he had relatively mild radiological and cardiological manifestations. Previously undescribed findings included pyloric stenosis and elevated alkaline phosphatase levels. Brain scans showed bilateral calcification of the Arteriae thalamostriatae and widening of the outer liquor spaces and lateral ventricles. Because the propositus is the youngest patient reported to date, our findings refine the clinical spectrum of Cantú syndrome in neonates and young infants. The etiology and mode of inheritance of Cantú syndrome are unknown. Most cases are sporadic. Microdeletions have been discussed as a possible cause of Cantú syndrome. Recently, several syndromes with multiple congenital anomalies and mental retardation have been shown to be caused by subtelomeric chromosome aberrations. We excluded the presence of a cryptic subtelomeric chromosome anomaly in our patient by fluorescence in situ hybridization (FISH) screening with locus-specific probes.

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Section: Discussionmentioning

confidence: 64%

Further case of Cantú syndrome: Exclusion of cryptic subtelomeric chromosome aberrations

et al. 2002

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“…Knight et al 8 reported in their series a boy with a de novo der(18)t(X;18)(q28;q23) who was severely mentally retarded with growth retardation (including microcephaly), crowded midface, small carp-like mouth, maxillary hypoplasia, small, widely spaced nipples, and a small hypoplastic scrotum (R Winter, personal communication). Vogels et al 126 described a family with a cryptic translocation t(5;18)(qter;qter) that had resulted in unbalanced offspring with features characteristic of the 18q deletion syndrome (growth deficiency, nystagmus, narrow auditory canals, genital hypoplasia, behavioural problems) and features that are observed in 5q duplication (umbilical and inguinal hernias and congenital heart defect). Another familial cryptic translocation (11q;18q) was described by Schultz et al 93 Two adult men in this family had a subtelomeric deletion 18q and duplication 11q.…”

Section: Qmentioning

confidence: 99%

Telomeres: a diagnosis at the end of the chromosomes

Vries

Winter

Schinzel³

et al. 2003

Journal of Medical Genetics

215

190

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“…Translocations, cytogenetically unbalanced [4,43] or balanced [3,54], may be found by using conventional banding and FISH techniques in patients with congenital abnormalities, developmental delay or growth retardation. De novo translocation breakpoints may cause a deletion or disruption of genes within the involved regions [28] leading to clinical symptoms also in cytogenetically balanced cases as demonstrated in this case.…”

Section: Discussionmentioning

confidence: 99%