|
1
|
De Braekeleer M and Dao TN: Cytogenetic
studies in male infertility: A review. Hum Reprod. 6:245–250. 1991.
View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Sheth FJ, Liehr T, Kumari P, Akinde R,
Sheth HJ and Sheth JJ: Chromosomal abnormalities in couples with
repeated fetal loss: An Indian retrospective study. Indian J Hum
Genet. 19:415–422. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Jalbert P, Sele B and Jalbert H:
Reciprocal translocations: A way to predict the mode of imbalanced
segregation by pachytene-diagram drawing. Hum Genet. 55:209–222.
1980. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Gérard-Blanluet M, Romana S, Munier C, Le
Lorc'h M, Kanafani S, Sinico M, Touboul C, Levaillant JM, Haddad B,
Lopez N, et al: Classical West ‘syndrome’ phenotype with a
subtelomeric 4p trisomy. Am J Med Genet A. 130A:1–302. 2004.
View Article : Google Scholar
|
|
5
|
Okumura A, Atsushi Ishii, Shimojima K,
Kurahashi H, Yoshitomi S, lmai K, Imamura M, Seki Y, Shimizu T
Toshiaki, Hirose S and Yamamoto T: Phenotypes of children with
20q13.3 microdeletion affecting KCNQ2 and CHRNA4. Epileptic Disord.
17:165–171. 2015.PubMed/NCBI
|
|
6
|
Wilson MG, Towner JW and Negus LD:
Wolf-Hirschhorn syndrome associated with an unusual abnormality of
chromosome no. 4. J Med Genet. 7:164–170. 1970. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Schönewolf-Greulich B, Ravn K,
Hamborg-Petersen B, Brøndum-Nielsen K and Tümer Z: Segregation of a
4p16.3 duplication with a characteristic appearance, macrocephaly,
speech delay and mild intellectual disability in a 3-generation
family. Am J Med Genet A. 161A:–2362. 2013.
|
|
8
|
Iype T, Alakbarzade V, Iype M, Singh R,
Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA,
Warner TT, et al: A large Indian family with rearrangement of
chromosome 4p16 and 3p26.3 and divergent clinical presentations.
BMC Med Genet. 16:1042015. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Hannes F, Drozniewska M, Vermeesch JR and
Haus O: Duplication of the Wolf-Hirschhorn syndrome critical region
causes neurodevelopmental delay. Eur J Med Genet. 53:136–140. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Kim YH, Kim HS, Ryoo NH and Ha JS: Two
cases of partial trisomy 4p and partial trisomy 14q. Ann Lab Med.
33:69–74. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Carmany EP and Bawle EV: Microduplication
of 4p16.3 due to an unbalanced translocation resulting in a mild
phenotype. Am J Med Genet A. 155A:1–824. 2011.PubMed/NCBI
|
|
12
|
Mefford HC, Cook J and Gospe SM Jr:
Epilepsy due to 20q13.33 subtelomere deletion masquerading as
pyridoxine-dependent epilepsy. Am J Med Genet A. 158A:1–3195. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Marques F, Heredia R, de Oliveira C,
Cardoso MT, Mazzeu J and Pogue R: Partial trisomy 17q and partial
monosomy 20q in a boy with craniosynostosis. Am J Med Genet A.
167:412–416. 2015. View Article : Google Scholar
|
|
14
|
Traylor RN, Bruno DL, Burgess T, Wildin R,
Spencer A, Ganesamoorthy D, Amor DJ, Hunter M, Caplan M, Rosenfeld
JA, et al: A genotype-first approach for the molecular and clinical
characterization of uncommon de novo microdeletion of 20q13.33.
PLoS One. 5:e124622010. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Weckhuysen S, Mandelstam S, Suls A,
Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D,
Yordanova I, et al: KCNQ2 encephalopathy: Emerging phenotype of a
neonatal epileptic encephalopathy. Ann Neurol. 71:15–25. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Kroepfl T, Petek E, Schwarzbraun T,
Kroisel PM and Plecko B: Mental retardation in a girl with a
subtelomeric deletion on chromosome 20q and complete deletion of
the myelin transcription factor 1 gene (MYT1). Clin Genet.
73:492–495. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Romm E, Nielsen JA, Kim JG and Hudson LD:
Myt1 family recruits histone deacetylase to regulate neural
transcription. J Neurochem. 93:1444–1453. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Chen Z, Wang L, Wang C, Chen Q, Zhai Q,
Guo Y and Zhang Y: Mutational analysis of CHRNB2, CHRNA2 and CHRNA4
genes in Chinese population with autosomal dominant nocturnal
frontal lobe epilepsy. Int J Clin Exp Med. 8:9063–9070.
2015.PubMed/NCBI
|
|
19
|
Schaeffer AJ, Chung J, Heretis K, Wong A,
Ledbetter DH and Martin C Lese: Comparative genomic
hybridization-array analysis enhances the detection of aneuploidies
and submicroscopic imbalances in spontaneous miscarriages. Am J Hum
Genet. 74:1168–1174. 2004. View
Article : Google Scholar : PubMed/NCBI
|
