GOMBO syndrome: Another “pseudorecessive” disorder due to a cryptic translocation

Verloes, Alain; Lesenfants, Sylviane; Jamar, Mauricette; Dideberg, Vinciane; Herens, Christian

doi:10.1002/1096-8628(20001113)95:2<185::aid-ajmg19>3.3.co;2-o

Cited by 4 publications

(5 citation statements)

References 2 publications

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“…As some apparently Mendelian syndromes were found recently to result from unbalanced cryptic translocations [Herens et al, 1997; Kant et al, 1997; Devriendt et al, 2000; Verloes et al, 2000], we wanted to be sure that this family did not have a previously reported syndrome. A search of the London Dysmorphology Database and POSSUM database was then performed.…”

Section: Discussionmentioning

confidence: 99%

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation

et al. 2002

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Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, cryptorchidism, and prelingual sensorineural deafness. One of the twins presented with mild cardiac dilatation and died at age 3(1/2) from cardiac arrest during an episode of acute respiratory infection. While chromosome analyses performed for both twins on peripheral blood showed apparently normal karyotypes, screening for all telomeric regions on the surviving propositus revealed a combination of partial 6p trisomy and partial 11q monosomy. A balanced reciprocal translocation was found in the father. The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed.

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Section: Discussionmentioning

confidence: 99%

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation

et al. 2002

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“…The phenotype was caused by a 3pter monosomy and 22qter trisomy as a result of der(3),t(3;22)(p25;q13). 37 Characteristic features of the 3p− syndrome include low birth weight, microcephaly, mental and growth retardation, trigonocephaly, hypotonia, ptosis, telecanthus, downward slanting palpebral fissures, and micrognathia. Other less frequent abnormalities are preauricular pits, cleft palate, postaxial polydactyly, heart defects, and renal and gastrointestinal anomalies.…”

Section: Pmentioning

confidence: 99%

“…[37][38][39] Remarkably, Knight et al 39 reported a phenotypically normal mother and child both with a terminal 3p25.3 deletion, which suggests that a deletion distal to 3p25.3 does not need to have an apparent deleterious effect.…”

Section: Pmentioning

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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“…Furthermore, several rare entities thought to show Mendelian inheritance have been proven to be caused by a submicroscopic chromosome anomaly, an example being GOMBO syndrome, which was found to be caused by a cryptic 3;22 translocation. 9 Some of the so called "private syndromes" may be similarly explained in the near future.…”

mentioning

confidence: 99%

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

Karnebeek

Koevoets²,

Sluijter³

et al. 2002

Journal of Medical Genetics

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Objective: The frequency of subtelomeric rearrangements in patients with unexplained mental retardation (MR) is uncertain, as most studies have been retrospective and case retrieval may have been biased towards cases more likely to have a chromosome anomaly. To ascertain the frequency of cytogenetic anomalies, including subtelomeric rearrangements, we prospectively screened a consecutive cohort of cases with unexplained MR in an academic tertiary centre. Methods: Inclusion criteria were: age <18 years at referral, IQ<85, no aetiological diagnosis after complete examination, which included karyotyping with high resolution banding (HRB). Results: In 266 karyotyped children, anomalies were detected in 20 (7.5%, seven numerical, 13 structural); 39 cases were analysed by FISH for specific interstitial microdeletions, and anomalies were found in nine (23%). FISH analyses for subtelomeric microdeletions were performed in 184 children (44% moderate-profound MR, 51% familial MR), and one rearrangement (0.5%) was identified in a non-familial MR female with mild MR (de novo deletion 12q24.33-qter). The number of probable polymorphisms was considerable: 2qter (n=7), Xpter (n=3), and Ypter (n=1). A significantly higher total number of malformations and minor anomalies was present in the cytogenetic anomaly group compared to the group without cytogenetic anomalies. Conclusions: The total frequency of cytogenetic anomalies in this prospective study was high (1:10), but the frequency of subtelomeric rearrangements was low. The most likely explanations are the high quality of HRB cytogenetic studies and the lack of clinical selection bias. Conventional cytogenetic analyses, combined with targeted microdeletion testing, remain the single most effective way of additional investigation in mentally retarded children, also in a tertiary centre.

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GOMBO syndrome: Another “pseudorecessive” disorder due to a cryptic translocation

Cited by 4 publications

References 2 publications

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation

Telomeres: a diagnosis at the end of the chromosomes

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

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