A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother
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09. Juli 2016
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Artikel-Kategorie: Case Report
Online veröffentlicht: 09. Juli 2016
Seitenbereich: 77 - 82
DOI: https://doi.org/10.1515/bjmg-2015-0089
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© 2016 Walter de Gruyter GmbH, Berlin/Boston
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![Karyotype of the mother [t(11;22)(q23.3;q11.2)].](https://sciendo-parsed.s3.eu-central-1.amazonaws.com/6470df7871e4585e08aa7782/j_bjmg-2015-0089_fig_005.jpg?X-Amz-Algorithm=AWS4-HMAC-SHA256&X-Amz-Content-Sha256=UNSIGNED-PAYLOAD&X-Amz-Credential=AKIA6AP2G7AKOUXAVR44%2F20250910%2Feu-central-1%2Fs3%2Faws4_request&X-Amz-Date=20250910T112538Z&X-Amz-Expires=3600&X-Amz-Signature=320c5cf3665e83358c5dc703202d31e207317d632b37257bef965c89930efe04&X-Amz-SignedHeaders=host&x-amz-checksum-mode=ENABLED&x-id=GetObject)
List of clinical features observed in Emanuel syndrome_
| System Involved | Clinical Features | Our Case |
|---|---|---|
| 1. Growth and development | Pre- and postnatal growth retardation, delayed speech and language development | Delayed speech and language development, feeding problems, not independently ambulatory |
| 2. Craniofacial anomalies | Microbrachycephaly, prominent forehead, epicanthal folds, downslanting palpebral fissures, broad and flat nasal bridge, long pronounced philtrum, abnormal auricles, preauricular ear pits and/or tags (76.0%), deafness and otitis media | Otitis media, preauricular tags or sinuses, bilateral hearing loss, lateral ventricles are enlarged by ~22 mm, short neck, low posterior hairline, glaucoma |
| 3. Central nervous system | Most commonly, microcephaly present seizures, failure to thrive and delayed psychomotor development | Delayed psychomotor development, white matter abnormalities, cerebral atrophy, microcephaly |
| 4. Cardiac defects | Sixty percent of individuals with congenital heart defects such as atrial septal defect, ventricular septal defect, Tetralogy of Fallot and patent ductus arteriosus | Secundum atrial septal defect |
| 5. Genitointestinal defects | Diaphragmatic hernia, anal atresia, inguinal hernias, biliary atresia, small penis (64.0%) and cryptorchidism (46.0%) | Complex congenital diaphragmatic hernia, inguinal hernias, undescended testes, gallstones |
| 6. Musculoskeletal defects | Most commonly, centrally based hypotonia, congenital hip dislocation, arachnodactyly, club foot and joint, syndactyly of the toes, delayed bone age and hyperextensibility of joints | Hypotonia, scoliosis, kyphosis |
| 7. Oral findings | Cleft palate (50.0%), micrognathia (60.0%), angular mouth pits, bifid uvula and facial asymmetry | Micrognathia, cleft or high-arched palate |
| 8. Immunological defects | Congenital immunological deficiency | Congenital immunological deficiency |
| 9. Renal defects | Renal defects (36.0%) | Kidney abnormalities |
List of reported cases of Emanuel syndrome_
| References | Reported Cases ( | |
|---|---|---|
| 1 | Zaki MS, Mohamed AM, Kamel AK, El-Gerzawy AM, El-Ruby MO. Emanuel syndrome due to unusual segregation of paternal origin. Genet Counsel. 2012; 23(2): 319-328. | 1 |
| 2 | Walfisch A, Mills KE, Chodirker BN, Berger H. Prenatal screening characteristics in Emanuel syndrome: A case series and review of literature. Arch Gynecol Obstet. 2012; 286(2): 199-302. | 5 |
| 3 | Kim HJ, Kim YM, Lee HB, Kim JH, Seo EJ, Yoo HW. A case with Emanuel syndrome resulting from a maternal translocation. J Med Genet. 2012; 9(1): 35-37. | 1 |
| 4 | Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet Part A. 2009; 149A(8): 1712-1721. | 63 |
| 5 | Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, | 1 |
| 6 | Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev. 2008; 14(1): 11-18. | 1 |
| 7 | Prieto JC, Garcia NM, Elder FF, Zinn AR, Baker LA. Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschprung’s disease. J Pediatr Surgery. 2007; 42(11): 1928-1932. | 1 |
| 8 | Crolla JA, Youings SA, Ennis S, Jacobs PA. Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age reviseted. Eur J Hum Genet. 2005; 13(2): 154-160. | 1 |
| 9 | Hou JW. Supernumerary chromosome marker der(22)t11;22) resulting from a maternal balanced translocation. Chang Gung Med J. 2003; 26(1): 48-52. | 1 |
| 10 | Rosias PPR, Sijstermans JMJ, Theunissen PMVM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, | 1 |
| 11 | Estop AM, Cieply KM, Munne S, Feingold E. Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Hum Genet. 1999; 104(5): 412-417. | 1 |
| 12 | Funke B, Edelmann N, McCain N, Pandita RK, Ferreira J, Merscher S, | 1 |
| 13 | Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic masegregation in multiple unrelated t(11;22) families. Am J Hum Genet. 1999; 65(6): 1595-1607. | 1 |
| 14 | Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. J Med Genet. 1996; 33(1): 952-956. | 1 |
| 15 | Beedgen B, Nützenadel W, Querfeld U, Weiss-Wichert P. Partial trisomy 22 and 11 due to a paternal 11;22 translocation associated with Hirschsprung disease. Eur J Pediatr. 1986; 145(3): 229-232. | 1 |
| 16 | Fraccaro M, Lindsten J, Ford CE, Iselius L. The 11q;22q translocation: A European collaborative analysis of 43 cases. Hum Genet. 1980; 56(1): 21-51. | 1 |
| 17 | Pfeifer RA, Kessel EK, Soer KH. Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin Genet. 1977; 11(2): 207-213. | 1 |