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chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number

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1. 血液悪性腫瘍およびリンパ悪性腫瘍の遺伝的異常 genetic abnormalities in hematologic and lymphoid malignancies
2. 急性骨髄性白血病における細胞遺伝学 cytogenetics in acute myeloid leukemia
3. 骨髄異形成症候群における細胞遺伝学および分子遺伝学 cytogenetics and molecular genetics of myelodysplastic syndromes
4. 骨髄異形成症候群の臨床症状および診断 clinical manifestations and diagnosis of the myelodysplastic syndromes
5. 急性骨髄性白血病の分子遺伝学 molecular genetics of acute myeloid leukemia

A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION.

Eid MO, Eid MM, Kamel AK, El-Ruby M, Abdel-Salam GM.
Genetic counseling (Geneva, Switzerland).Genet Couns.2015;26(2):153-61.
Duplication of the short arm of chromosome 7 is a genomic disorder presenting with distinctive facies including hypertelorism, large anterior fontanel, and intellectual disability. A 2½-year-old Egyptian girl was referred because of cleft palate and dysmorphic features. She showed clinical manifest
PMID 26349184

Genomic imbalance defines three prognostic groups for risk stratification of patients with chronic lymphocytic leukemia.

Houldsworth J1, Guttapalli A, Thodima V, Yan XJ, Mendiratta G, Zielonka T, Nanjangud G, Chen W, Patil S, Mato A, Brown JR, Rai K, Chiorazzi N, Chaganti RS.
Leukemia & lymphoma.Leuk Lymphoma.2014 Apr;55(4):920-8. doi: 10.3109/10428194.2013.845882. Epub 2013 Nov 12.
Array comparative genomic hybridization (aCGH) has yet to be fully leveraged in a prognostic setting in chronic lymphocytic leukemia (CLL). Genomic imbalance was assessed in 288 CLL specimens using a targeted array. Based on 20 aberrations in a hierarchical manner, all 228 treatment-naive specimens
PMID 24047479

A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH.

Geckinli BB, Aydin H, Karaman A.
Genetic counseling (Geneva, Switzerland).Genet Couns.2014;25(4):405-12.
We report a patient with neurodevelopmental delay, hypotonia, congenital cardiac anomaly and dysmorphic features such as macrocephaly, a large anterior fontanel, prominent forehead, short neck, downslanted and short palpebral fissures, hypertelorism, wide nasal bridge, straight, thin nose with asymm
PMID 25804019

NIMURA Takashi,MIURA Ikuo,KOBAYASHI Yoshimi,YOSHIOKA Tomoko,KUME Masaaki,TAKAHASHI Naoto,HIROKAWA Makoto,MIURA Akira B.,SAWADA Ken-ichi
Journal of clinical and experimental hematopathology 43(2), 53-60, 2003-10-01
… The most common additional region was lq which contained a locus of the IL-6 receptor gene instead of 7p, the locus of the IL-6 gene. … The break points were clustered at 1p13, 6q21, 7p11.2 14q32, 17p11 and 19p13.3, which were the loci of protooncogenes, tumor suppresser genes or immunoglobulin-related genes. …
NAID 130000853042

Mechanisms for the Occurrence of Three Uniparental Disomies Associated with Abnormal Phenotypes

Osamu MIYOSHI
Acta medica Nagasakiensia 43(3-4), 19-25, 1998-12
… A likely mechanism for her UPD7 is monosomy duplication, followed by somatic loss of the ring chromosome. … The finding also indicates that the putative SRS locus can be ruled out from the centromeric region, 7p13-qll. …
NAID 110000013829