WordNet

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

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
2. 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
3. 性染色体異常 sex chromosome abnormalities
4. 黒色腫（メラノーマ）の分子生物学 the molecular biology of melanoma
5. 急性骨髄性白血病における細胞遺伝学 cytogenetics in acute myeloid leukemia

An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review.

Vlaikou AM1, Manolakos E, Noutsopoulos D, Markopoulos G, Liehr T, Vetro A, Ziegler M, Weise A, Kreskowski K, Papoulidis I, Thomaidis L, Syrrou M.
Cytogenetic and genome research.Cytogenet Genome Res.2014;142(4):227-38. doi: 10.1159/000361001. Epub 2014 Apr 9.
The 4q deletion syndrome phenotype consists of growth failure and developmental delay, minor craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified an inversion (inv(1)(q25.2q31.1)) and an interstitial deletion in a boy with developmental delay using array-
PMID 24733116

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Ricci G1, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.
Brain : a journal of neurology.Brain.2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.
Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype. However, we have recently reported that 1.3% of healthy individuals carry this molecular signature and 19% of sub
PMID 24030947

Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis.

Capalbo A, Sinibaldi L, Bernardini L, Spasari I, Mancuso B, Maggi E, Novelli A.
Prenatal diagnosis.Prenat Diagn.2013 Aug;33(8):782-96. doi: 10.1002/pd.4105. Epub 2013 May 27.
PMID 23712311

Four novel non-random chromosome rearrangements in B-cell chronic lymphocytic leukaemia: 6p24-25 and l2pl2-13 translocations,4q21 anomalies and monosomy 21

先天異常 : 日本先天異常学会会報 : official journal of Congeital Anomalies Research Association of Japan 15(3), 139-149, 1975-09-30
NAID 110002753869