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Volumn 78, Issue 7, 2014, Pages 1190-1193

A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: A case report and review of the literature

Author keywords

19p13.2 deletion; Chromosome 19p; Microdeletion; Mild mental retardation; Mild sensorineural hearing loss

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DELETION 19P13.2; CLINICAL FEATURE; DYSGRAPHIA; DYSLEXIA; FACE DYSMORPHIA; HEARING AID; HUMAN; LANGUAGE DELAY; MALE; MENTAL DEFICIENCY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; TYMPANOMETRY; CHROMOSOME 19; FACIES; GENETICS; INTELLECTUAL IMPAIRMENT; LANGUAGE DEVELOPMENT DISORDERS;

EID: 84902086686     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2014.03.031     Document Type: Article
Times cited : (3)

References (23)
  • 2
    • 84859005756 scopus 로고    scopus 로고
    • Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion
    • Marangi G., Orteschi D., Vigevano F., Felie J., Walsh C.A., Manzini M.C., et al. Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. Am. J. Med. Genet. A 2012, 158A:888-893.
    • (2012) Am. J. Med. Genet. A , vol.158 A , pp. 888-893
    • Marangi, G.1    Orteschi, D.2    Vigevano, F.3    Felie, J.4    Walsh, C.A.5    Manzini, M.C.6
  • 5
    • 66849132599 scopus 로고    scopus 로고
    • Split hand-foot malformation, tetralogy of Fallot, mental retardation and a Mb 19p deletion - evidence for further heterogeneity?
    • Aten E., den Hollander N., Ruivencamp C., Knijebburg J., van Bokhoven H., den Dunnen J., et al. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a Mb 19p deletion - evidence for further heterogeneity?. Am. J. Genet. A 2009, 149A:975-981.
    • (2009) Am. J. Genet. A , vol.149 A , pp. 975-981
    • Aten, E.1    den Hollander, N.2    Ruivencamp, C.3    Knijebburg, J.4    van Bokhoven, H.5    den Dunnen, J.6
  • 6
    • 70350401137 scopus 로고    scopus 로고
    • Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1A associated with mental retardation and epilepsy with infantile spasms
    • Auvin S., Holder-Espinasse M., Lamblin M.D., Andrieux J. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia 2009, 50:2501-2503.
    • (2009) Epilepsia , vol.50 , pp. 2501-2503
    • Auvin, S.1    Holder-Espinasse, M.2    Lamblin, M.D.3    Andrieux, J.4
  • 7
    • 78649648082 scopus 로고    scopus 로고
    • Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies
    • Al-Kateb H., Hahn A., Gastier-Foster J.M., Jeng L., McCandless S.E., Curtis C.A. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. Am. J. Med. Genet. A 2009, 152A:3148-3153.
    • (2009) Am. J. Med. Genet. A , vol.152 A , pp. 3148-3153
    • Al-Kateb, H.1    Hahn, A.2    Gastier-Foster, J.M.3    Jeng, L.4    McCandless, S.E.5    Curtis, C.A.6
  • 10
    • 77649320257 scopus 로고    scopus 로고
    • Genetic copy number variants in sib pairs both affected with schizophrenia
    • Lee C.H., Liu C.M., Wen C.C., Chang S.M., Hwu H.G. Genetic copy number variants in sib pairs both affected with schizophrenia. J. Biomed. Sci. 2010, 17:2.
    • (2010) J. Biomed. Sci. , vol.17 , pp. 2
    • Lee, C.H.1    Liu, C.M.2    Wen, C.C.3    Chang, S.M.4    Hwu, H.G.5
  • 11
    • 77956310887 scopus 로고    scopus 로고
    • A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12
    • Van der Aa N., Vandeweyer G., Kooy F. A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12. Eur. J. Med. Genet. 2010, 53:291-293.
    • (2010) Eur. J. Med. Genet. , vol.53 , pp. 291-293
    • Van der Aa, N.1    Vandeweyer, G.2    Kooy, F.3
  • 12
    • 78650437222 scopus 로고    scopus 로고
    • High-resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome
    • Busse T., Graham J.M., Feldman G., Perin J., Catherwood A., Knowlton R., et al. High-resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome. Hum. Mutat. 2011, 32:91-97.
    • (2011) Hum. Mutat. , vol.32 , pp. 91-97
    • Busse, T.1    Graham, J.M.2    Feldman, G.3    Perin, J.4    Catherwood, A.5    Knowlton, R.6
  • 13
    • 78149358123 scopus 로고    scopus 로고
    • 19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development
    • Siggberg L., Olsén P., Näntö-Salonen K., Knuutila S. 19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development. Cytogenet. Genome Res. 2011, 132:8-15.
    • (2011) Cytogenet. Genome Res. , vol.132 , pp. 8-15
    • Siggberg, L.1    Olsén, P.2    Näntö-Salonen, K.3    Knuutila, S.4
  • 14
    • 79954997830 scopus 로고    scopus 로고
    • Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behaviour problems
    • De Smith A.J., van Haelst M.M., Ellis R.J., Holder S.E., Payne S.J., Hashim S.K., et al. Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behaviour problems. Am. J. Med. Genet. A 2011, 155A:1192-1195.
    • (2011) Am. J. Med. Genet. A , vol.155 A , pp. 1192-1195
    • De Smith, A.J.1    van Haelst, M.M.2    Ellis, R.J.3    Holder, S.E.4    Payne, S.J.5    Hashim, S.K.6
  • 15
    • 83355172813 scopus 로고    scopus 로고
    • 19p13.2 microduplication causes a sotos syndrome-like phenotype and alters gene expression
    • Lehman A.M., du Souich C., Chai D., Eydoux P., Huang J.L., Fok A.K., et al. 19p13.2 microduplication causes a sotos syndrome-like phenotype and alters gene expression. Clin. Genet. 2012, 81:56-63.
    • (2012) Clin. Genet. , vol.81 , pp. 56-63
    • Lehman, A.M.1    du Souich, C.2    Chai, D.3    Eydoux, P.4    Huang, J.L.5    Fok, A.K.6
  • 16
    • 0030796428 scopus 로고    scopus 로고
    • New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p
    • Chen A., Wayne S., Bell A., Ramesh A., Srisailapathy C.R., Scott D.A., et al. New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. Am. J. Med. Genet. 1997, 71:467-471.
    • (1997) Am. J. Med. Genet. , vol.71 , pp. 467-471
    • Chen, A.1    Wayne, S.2    Bell, A.3    Ramesh, A.4    Srisailapathy, C.R.5    Scott, D.A.6
  • 17
    • 33745686138 scopus 로고    scopus 로고
    • DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2
    • Santos R.L., Hassan M.J., Sikandar S., Lee K., Ali G., Martin P.E., et al. DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Hum. Genet. 2006, 120:85-92.
    • (2006) Hum. Genet. , vol.120 , pp. 85-92
    • Santos, R.L.1    Hassan, M.J.2    Sikandar, S.3    Lee, K.4    Ali, G.5    Martin, P.E.6
  • 18
    • 36348998046 scopus 로고    scopus 로고
    • The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3
    • Ain Q., Nazli S., Riazuddin S., Jaleel A.U., Riazuddin S.A., Zafar A.U., et al. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Hum. Genet. 2012, 122:445-450.
    • (2012) Hum. Genet. , vol.122 , pp. 445-450
    • Ain, Q.1    Nazli, S.2    Riazuddin, S.3    Jaleel, A.U.4    Riazuddin, S.A.5    Zafar, A.U.6
  • 20
    • 84878227785 scopus 로고    scopus 로고
    • De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability
    • Wangensteen T., Retterstøl L., Rødningen O.K., Hjelmesaeth J., Aukrust P., Halvorsen B. De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability. Am. J. Med. Genet. A 2013, 161A:1480-1486.
    • (2013) Am. J. Med. Genet. A , vol.161 A , pp. 1480-1486
    • Wangensteen, T.1    Retterstøl, L.2    Rødningen, O.K.3    Hjelmesaeth, J.4    Aukrust, P.5    Halvorsen, B.6
  • 21
    • 84879461493 scopus 로고    scopus 로고
    • Deletion of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy
    • Bassuk A.G., Geraghty E., Wu S., Mullen S.A., Berkovic S.F., Scheffer I.E., et al. Deletion of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Am. J. Med. Genet. A 2013, 161A:1722-1725.
    • (2013) Am. J. Med. Genet. A , vol.161 A , pp. 1722-1725
    • Bassuk, A.G.1    Geraghty, E.2    Wu, S.3    Mullen, S.A.4    Berkovic, S.F.5    Scheffer, I.E.6
  • 22
  • 23
    • 33947495227 scopus 로고    scopus 로고
    • DNA microarray analysis identified candidate regions and genes unexplained mental retardation
    • Engels H., Brockschmidt A., Hoischen A., Landwegr C., Bosse K., Walldorf C., et al. DNA microarray analysis identified candidate regions and genes unexplained mental retardation. Neurology 2007, 68:743-750.
    • (2007) Neurology , vol.68 , pp. 743-750
    • Engels, H.1    Brockschmidt, A.2    Hoischen, A.3    Landwegr, C.4    Bosse, K.5    Walldorf, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.