De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1322-1325

  Nishimura, Akira ^a   Hiraki, Yoko ^a,b   Shimoda, Hiroko ^c   Nishimura, Gen ^d   Tadaki, Hiromi ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Hiroshima Municipal Center for Child Health and Development   (Japan)

^c Saijo cho   (Japan)

^d TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION 4; DISEASE SEVERITY; GROWTH RETARDATION; HEARING LOSS; HUMAN; INTRAUTERINE GROWTH RETARDATION; LETTER; MALE; OTITIS MEDIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GROWTH DISORDERS; HUMANS; INFANT, NEWBORN; KARYOTYPING; PHENOTYPE; PREGNANCY;

EID: 77951744106     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33371     Document Type: Letter

References (10)

1. Chaabouni M, Martinovic J, Sanlaville D, Attie-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N. 2006. Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion. Eur J Med Genet 49:487-493.
2. Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM. 2008. Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities. Am J Med Genet Part A 146A:2937-2943.
3. Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR. 1991. Molecular characterization of a patient with del(1)(q23-q25). Hum Genet 87:269-277.
4. Hoglund P, Jalkanen R, Marttinen E, Alitalo T. 2003. Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations.AmJ Med Genet Part A 123A:290-295.
5. Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S. 2001. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet 69:961-968. (Pubitemid 33015811)
6. Marcelino J, Carpten JD, SuwairiWM,Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM,Warman ML. 1999. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet 23:319-322. (Pubitemid 29526430)
7. Melis D, Perone L, Sperandeo MP, Sabbatino MS, Tuzzi MR, Romano A, Parenti G, Andria G. 1998. Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1. J Med Genet 35:1047-1049. (Pubitemid 28534684)
8. Pallotta R, Dalpra L, Miozzo M, Ehresmann T, Fusilli P. 2001. A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. Am J Med Genet 104:282-286. (Pubitemid 33131642)
9. Takano T, Yamanouchi Y, Mori Y, Kudo S, Nakayama T, Sugiura M, Hashira S, Abe T. 1997. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III. Am J Med Genet 68:207-210. (Pubitemid 27081840)
10. Taysi K, Sekhon GS, Hillman RE. 1982. A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25. Am J Med Genet 13:423-430. (Pubitemid 13208324)