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Quoted phrase not found in phrase index: "Chromosome 8Q12.1-q21.2 deletion syndrome"
Page 1
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.
We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professionals in the recognition of this emerging chromosomal syndrome. ...The majority of deletions are maternally derived. …
We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health profe …
Ring chromosome 20.
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB. Daber RD, et al. Eur J Med Genet. 2012 May;55(5):381-7. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22. Eur J Med Genet. 2012. PMID: 22406087 Free article. Review.
Ring Chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory epilepsy, with seizures in wakefulness and sleep, behavioral problems and mild to severe cognitive impairment. ...In some patients, the ring (20) is found in all cells anal …
Ring Chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory epilepsy, with seizures in wakef …
Wolf-Hirschhorn (4p-) syndrome.
Battaglia A, Carey JC, Wright TJ. Battaglia A, et al. Adv Pediatr. 2001;48:75-113. Adv Pediatr. 2001. PMID: 11480768 Review.
Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of chromosome 4 (4p-). ...Although thought to affect 1 per 50,000 births, we believe that the syndrome is more common because of …
Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of …
Monosomy 1p36 deletion syndrome.
Gajecka M, Mackay KL, Shaffer LG. Gajecka M, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56. doi: 10.1002/ajmg.c.30154. Am J Med Genet C Semin Med Genet. 2007. PMID: 17918734 Review.
Monosomy 1p36 results from a heterozygous deletion of the most distal chromosomal band on the short arm of chromosome 1. Occurring in approximately 1 in 5,000 live births, monosomy 1p36 is the most common terminal deletion observed in humans. Mo …
Monosomy 1p36 results from a heterozygous deletion of the most distal chromosomal band on the short arm of chromosome 1 …
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
Le H, Jin E, Jewell A, Jackson-Cook C, Haskell GT, Couser N. Le H, et al. Am J Med Genet A. 2023 Jun;191(6):1639-1645. doi: 10.1002/ajmg.a.63186. Epub 2023 Mar 20. Am J Med Genet A. 2023. PMID: 36941760
The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. ...We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7-mon …
The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. ...We conducte …
Microduplication 22q11.2: a new chromosomal syndrome.
Portnoï MF. Portnoï MF. Eur J Med Genet. 2009 Mar-Jun;52(2-3):88-93. doi: 10.1016/j.ejmg.2009.02.008. Epub 2009 Feb 28. Eur J Med Genet. 2009. PMID: 19254783 Review.
The chromosome 22q11.2 region has long been implicated in genomic diseases. The low-copy repeats spanning the region predispose to homologous recombination events, and mediate nonallelic homologous recombinations that result in rearrangements of 22q11.2. Chromosome …
The chromosome 22q11.2 region has long been implicated in genomic diseases. The low-copy repeats spanning the region predispose to ho …
Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.
Greco M, Ferrara P, Farello G, Striano P, Verrotti A. Greco M, et al. Epilepsy Res. 2018 Jan;139:92-101. doi: 10.1016/j.eplepsyres.2017.11.016. Epub 2017 Dec 2. Epilepsy Res. 2018. PMID: 29212048 Review.
1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability. ...Genotype-phenotype correlation in this syndrome is complicated, because of the similar clinical evidence seen in patients with differen …
1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability. ...Ge …
-7/7q- syndrome in myeloid-lineage hematopoietic malignancies: attempts to understand this complex disease entity.
Honda H, Nagamachi A, Inaba T. Honda H, et al. Oncogene. 2015 May 7;34(19):2413-25. doi: 10.1038/onc.2014.196. Epub 2014 Jul 7. Oncogene. 2015. PMID: 24998854 Review.
The recurrence of chromosomal abnormalities in a specific subtype of cancer strongly suggests that dysregulated gene expression in the corresponding region has a critical role in disease pathogenesis. -7/7q-, defined as the entire loss of chromosome 7 and par …
The recurrence of chromosomal abnormalities in a specific subtype of cancer strongly suggests that dysregulated gene expressio …
The phenotype of patients with 4q-syndrome.
Strehle EM, Bantock HM. Strehle EM, et al. Genet Couns. 2003;14(2):195-205. Genet Couns. 2003. PMID: 12872814 Review.
The 4q-syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Here we review the phenotypical characteristics of 101 literature cases and delineate this evolving deletion syndrome further. The most common anoma …
The 4q-syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Here we review the phe …
The 22q11 deletion syndromes.
Scambler PJ. Scambler PJ. Hum Mol Genet. 2000 Oct;9(16):2421-6. doi: 10.1093/hmg/9.16.2421. Hum Mol Genet. 2000. PMID: 11005797 Review.
DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deletions and translocations involving human chromosome 22q11. ...Despite these efforts, no gene has yet been proved to play a d …
DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deleti …
3,128 results