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13q partial trisomy (q21-q)syndrome相关文献:
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR.
Best Pract Res Clin Haematol. 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153.
PMID:11640868
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW.
Puvabanditsin S, Herrera-Garcia G, Gengel N, Hussein K, February M, Mayne J, Mehta R.
Genet Couns. 2016;27(1):35-41.
PMID:27192890
Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review.
Abdul Rab S, Arabi TZ, Raheel HM, Sabbah BN, Zain AlAbidien NH, Alsemari A.
Heliyon. 2023 Feb 4;9(2):e13466. doi: 10.1016/j.heliyon.2023.e13466. eCollection 2023 Feb.
PMID:36820031
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L.
Neurochirurgie. 2019 Nov;65(5):246-251. doi: 10.1016/j.neuchi.2019.09.014. Epub 2019 Sep 27.
PMID:31568780
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.
Elidrissi Errahhali M, Elidrissi Errahhali M, Ramdani S, Lhousni S, Benajiba N, Rkain M, Babakhouya A, Elouali A, Ghanam A, Amrani R, Messaoudi S, Ayyad A, Oneib B, Mimouni A, Saadi H, Allaoui S, Ouarzane M, Guichet A, Charif M, Boulouiz R, Bellaoui M.
Arch Pediatr. 2024 Feb;31(2):112-116. doi: 10.1016/j.arcped.2023.10.002. Epub 2024 Jan 22.
PMID:38262863
[Somatic Mutations of Acquired Aplastic Anemia].
Zhang ML, Chen WS, Han B.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2022 Jun;44(3):491-496. doi: 10.3881/j.issn.1000-503X.13381.
PMID:35791949
Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children's Oncology Group.
Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB.
Pediatr Blood Cancer. 2023 May;70(5):e30251. doi: 10.1002/pbc.30251. Epub 2023 Feb 15.
PMID:36789545
Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.
Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB.
Am J Med Genet A. 2005 Jan 30;132A(3):310-3. doi: 10.1002/ajmg.a.30474.
PMID:15690377
Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.
Martin-de Saro M, Compean Z, Aguilar K, González-Huerta LM, Plaza-Benhumea L, Messina-Baas O, Cuevas-Covarrubiass SA.
Mol Syndromol. 2021 Aug;12(5):305-311. doi: 10.1159/000516058. Epub 2021 Jul 20.
PMID:34602958
Partial monosomy 13q (13q21.32--->qter) and partial trisomy 8p (8p1--->pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization.
Chen CP, Su YN, Tsai FJ, Lin MH, Wu PC, Chern SR, Lee CC, Pan CW, Wang W.
Taiwan J Obstet Gynecol. 2011 Jun;50(2):205-11. doi: 10.1016/j.tjog.2010.04.001.
PMID:21791309
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