Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

Choudhary, Madan Gopal; Babaji, Prashant; Sharma, Nitin; Dhamankar, Dilip; Naregal, Gururaj; Reddy, Vijay Sunil

doi:10.1155/2013/237935

Cited by 14 publications

(11 citation statements)

References 15 publications

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“…The duplication region at breakage points, such as 11q13‐qter, 11q21‐qter, and 11q23‐qter, and the presence of other chromosome deletions or duplication determine the main clinical features of partial trisomy 11q. For example, Emanuel syndrome is the result of partial trisomy of chromosome 11q23‐qter, combined with duplication of 22q10‐q11 [Choudhary et al, ; Ohye et al, ]. Partial trisomy of 11q without a copy number change of another chromosome is very rare [Zarate et al, ; Gohring et al, ; Burnside et al, ; Kayhan et al, ].…”

Section: Introductionmentioning

confidence: 99%

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Choi

Lee

2015

American J of Med Genetics Pt A

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Partial trisomy of 11q is characterized by pre/postnatal growth retardation, microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal muscle tone, inguinal hernia, and possible congenital heart defects. Here, we describe a 17-year-old male with a 17.77 Mb-sized [arr 11q23.3-q25 (116,667,559 -134,434,130) ×3] partial trisomy resulting from the unbalanced translocation between chromosomes 11 and 22. The terminal translocation was detected using oligonucleotide array comparative genomic hybridization (CGH) with fluorescence in situ hybridization (FISH) confirmation. The partial trisomy was inherited from his mother who had the low-level (22.7%) mosaic unbalanced translocation and a normal phenotype. The patient showed most of the common features of partial trisomy 11q syndrome, with additional findings, including mesenteric fibromatosis.

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Section: Introductionmentioning

confidence: 99%

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Choi

Lee

2015

American J of Med Genetics Pt A

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“…When triplicated, this region results in cat eye syndrome, and when duplicated in association with duplication of 11q, it results in Emanuel syndrome [Choudhary et al, 2013]. Interestingly, the loss of the same region may not cause clinically important features, such as in the family reported by Kriek et al [2006] which has 5 family members carrying the deletion without phenotypic alteration, suggesting that haploinsufficiency of the cat eye syndrome region may have no clinical relevance.…”

Section: Discussionmentioning

confidence: 99%

22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

et al. 2015

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We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a 3.3-Mb deletion of chromosome 22q and a 0.4-Mb deletion of chromosome 6p, which resulted in haploinsufficiency of the genes responsible for the 22q11.2 deletion syndrome and also of the <i>IRF4</i> gene, a member of the interferon regulatory factor family of transcription factors, which is expressed in the immune system cells. The rearrangement could be due to the manipulation of the embryo or as a sporadic event unrelated to IVF. Translocation involving chromosome 22 in a karyotype with 45 chromosomes is a rare event, with no previous reports involving chromosomes 6p and 22q.

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“…ES is a rare syndrome (~350 patients reported so far (http://ssmc-tl.com/chromosome-22.html). ES patients have a karyotype 47,XX,+der(22)t(11;22)(q23;q11) in females or 47,XY,+der(22)t(11;22)(q23;q11) in males [2,[6][7][8][9][10][11]. The supernumerary chromosome can be of maternal [9][10][11] or paternal origin [12,13].…”

Section: Discussionmentioning

confidence: 99%

Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

Jancevska¹,

Kitanovski²,

Laban

et al. 2015

Prilozi

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Multiple congenital anomalies and craniofacial dysmorphism are characterizing the so-called Emanuel or supernumerary der(22)t(11;22) syndrome (OMIM609029). Mental and developmental retardation are major clinical features. The der(22) may arise from a parental balanced t(11;22)(q23;q11.2) or can be created de novo. Here we present a 2 years old boy with normal prenatal history, cyanotic at delivery and with ear anomalies, a preauricular tag, high-arched palate and micrognathia. There were neither microcephaly, nor heart or kidney defects. Psychological and motor testing at the age of 2 years confirmed significant mental and developmental delay. In addition, the child had seizures and an abnormal electroencephalogram. Cytogenetic and molecular analyses revealed a karyotype 47,XY,+der(22)t(11;22)(q23;q11.2). As parents refused further tests it could not be determined if the der(22) arose de novo or was parentally derived. Overall the present report should alert physician to offer cytogenetic and/or molecular diagnostics in comparable cases.

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Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

Cited by 14 publications

References 15 publications

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

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