Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 60

1.

Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion.

Zahed L, Sismani C, Ioannides M, Saleh M, Koumbaris G, Kenj M, Abdallah A, Ayyache M, Patsalis P.

Am J Med Genet A. 2008 Apr 1;146(7):893-8. doi: 10.1002/ajmg.a.32128.

PMID:
18302279
[PubMed - indexed for MEDLINE]
2.

Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.

Takeno SS, Corbani M, Andrade JA, Smith Mde A, Brunoni D, Melaragno MI.

Am J Med Genet A. 2004 Aug 30;129A(2):180-3.

PMID:
15316961
[PubMed - indexed for MEDLINE]
3.

De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation.

Ramadevi AR, Naik U, Dutta U, Srikanth, Prabhakara K.

Am J Med Genet. 2002 Nov 22;113(2):190-2.

PMID:
12407711
[PubMed - indexed for MEDLINE]
4.

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints.

Kocks A, Endele S, Heller R, Schröder B, Schäfer HJ, Städtler C, Makrigeorgi-Butera M, Winterpacht A.

J Med Genet. 2002 May;39(5):E23. No abstract available.

PMID:
12011164
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R.

J Med Genet. 2001 Jun;38(6):417-20. No abstract available.

PMID:
11424927
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM.

J Med Genet. 2001 Mar;38(3):145-50.

PMID:
11238680
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Prenatal diagnosis of inherited satellited non-acrocentric chromosomes.

Chen CP, Devriendt K, Chern SR, Lee CC, Wang W, Lin SP.

Prenat Diagn. 2000 May;20(5):384-9.

PMID:
10820405
[PubMed - indexed for MEDLINE]
8.

A survey of 1,000 cases referred for cytogenetic study to King Khalid University Hospital, Saudi Arabia.

Al Husain M, Zaki OK.

Hum Hered. 1999 Jul;49(4):208-14.

PMID:
10436383
[PubMed - indexed for MEDLINE]
Free Article
9.

Prenatal karyotyping using fetal blood obtained by cordocentesis: rapid and accurate results within 24 hours.

Tharapel SA, Dev VG, Shulman LP, Tharapel AT.

Ann Genet. 1998;41(2):69-72.

PMID:
9706335
[PubMed - indexed for MEDLINE]
10.

Wolf-Hirschhorn syndrome and a split-hand malformation.

Bamshad M, O'Quinn JR, Carey JC.

Am J Med Genet. 1998 Feb 3;75(4):351-4.

PMID:
9482640
[PubMed - indexed for MEDLINE]
11.

Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4.

Hou JW, Wang TR.

J Med Genet. 1996 Oct;33(10):879-81.

PMID:
8933346
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience.

Barisić I, Zergollern L, Muzinić D, Hitrec V.

Clin Genet. 1996 Mar;49(3):145-51.

PMID:
8737980
[PubMed - indexed for MEDLINE]
13.

Mosaicism with a normal cell line and an autosomal structural rearrangement.

Gardner RJ, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL, Tumewu P, Watt AJ.

J Med Genet. 1994 Feb;31(2):108-14.

PMID:
8182714
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.

Urioste M, Martínez-Frías ML, Bermejo E, Jiménez N, Romero D, Nieto C, Villa A.

Am J Med Genet. 1994 Jan 1;49(1):94-7.

PMID:
7909650
[PubMed - indexed for MEDLINE]
15.

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.

Dallapiccola B, Mandich P, Bellone E, Selicorni A, Mokin V, Ajmar F, Novelli G.

Am J Med Genet. 1993 Nov 1;47(6):921-4.

PMID:
7904122
[PubMed - indexed for MEDLINE]
16.

Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21.

Phelan MC, Saul RA, Gailey TA Jr, Skinner SA.

Prenat Diagn. 1995 Mar;15(3):274-7.

PMID:
7784386
[PubMed - indexed for MEDLINE]
17.

Genetic screening for mental retardation in Michigan.

Thoene J, Higgins J, Krieger I, Schmickel R, Weiss L.

Am J Ment Defic. 1981 Jan;85(4):335-40.

PMID:
7457497
[PubMed - indexed for MEDLINE]
18.

Malformation syndrome of duplication 12q24.1 leads to qter.

Melnyk AR, Weiss L, Van Dyke DL, Jarvi P.

Am J Med Genet. 1981;10(4):357-65.

PMID:
7332029
[PubMed - indexed for MEDLINE]
19.

Ring 4 chromosome with terminal p and q deletions.

Finley WH, Finley SC, Chonmaitree T, Koors JE, Chandler WC.

Am J Dis Child. 1981 Aug;135(8):729-31.

PMID:
7270516
[PubMed - indexed for MEDLINE]
20.

Brief clinical report: an infant with duplication of 17q21 lead to 17qter.

Gallien JU, Neu RL, Wynn RJ, Steinberg-Warren N, Bannerman RM.

Am J Med Genet. 1981;8(1):111-5.

PMID:
7246600
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk