Results 181 to 190 of about 5,548 (213)

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

Human Genetics, 1989
A severely retarded and dysmorphic girl, carrying an unbalanced X/7 translocation with breakpoints at Xq28 and 7p14, was analyzed by cytogenetic, biochemical and molecular techniques. The X/7 translocated chromosome was found to replicate consistently late in the 105 metaphases analyzed.
A, Caiulo, B, Bardoni, G, Camerino, S, Guioli, A, Minelli, M, Piantanida, F, Crosato, T, Dalla Fior, P, Maraschio   +8 more
openaire   +2 more sources

Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3)

American Journal of Medical Genetics, 1995
AbstractInterstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low‐set abnormal ears; broad ...
Silvia Copelli, Graciela Del Rey, Juan Heinrich, Roberto Coco   +3 more
openaire   +1 more source

Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28

Human Genetics, 1995
We are currently characterizing mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis type II). Surprisingly, all 17 patients with a mutation in exon III of the IDS gene identified by us were found to carry both the mutant and wild-type sequences in polymerase chain reaction (PCR) products amplified ...
M, Rathmann, S, Bunge, C, Steglich, E, Schwinger, A, Gal   +4 more
openaire   +2 more sources

The identification of a third fragile site, FRAXF, in Xq27 — q28 distal to both FRAXA and FRAXE

Human Molecular Genetics, 1993
FRAXA is unique amongst fragile sites in that it is intimately involved with a specific clinical phenotype, the fragile X syndrome. Whilst the majority of fragile X individuals have been found to have a characteristic mutation in the FMR1 gene, a small proportion of individuals exhibiting fragility have no such mutation.
M C, Hirst, A, Barnicoat, G, Flynn, Q, Wang, M, Daker, V J, Buckle, K E, Davies, M, Bobrow   +7 more
openaire   +2 more sources

Expression of the marker (X) (q28) in lymphoblastoid cell lines.

American journal of human genetics, 1982
The marker(X)(q28) chromosome associated with one type of X-linked mental retardation has been demonstrated in lymphoblastoid cell lines established from affected individuals. The mar(x) can reliably and repeatedly be seen by the addition of FUdR to the cultures for 24 hrs prior to harvest.
P A, Jacobs, P A, Hunt, M, Mayer, J C, Wang, G R, Boss, R W, Erbe   +5 more
openaire   +1 more source

Chromosomal localization of the human gene for annexin V (placental anticoagulant protein I) to 4q26→q28

Cytogenetics and Cell Genetics, 2008
Annexin V is a member of a new family of calcium-dependent phospholipid-binding proteins. It has been previously isolated as placental anticoagulant protein I, inhibitor of blood coagulation, vascular anticoagulant-α, endonexin II, lipocortin V, placental protein 4, and anchorin CΠ.
J F, Tait, D A, Frankenberry, R, Shiang, J C, Murray, D A, Adler, C M, Disteche   +5 more
openaire   +2 more sources

MPEC 2025-Q28 : 2025 PZ2

The Minor Planet Electronic Circulars contain information on unusual minor planets, routine data on comets and natural satellites, and occasional editorial announcements. They are published on behalf of Division F of the International Astronomical Union by the Minor Planet Center, Smithsonian Astrophysical Observatory, Cambridge, MA 02138, U.S.A.
openaire   +1 more source

A girl with a 14.7 Mb 3q26.32–q28 duplication: a new report of 3q duplication syndrome and a literature review

Clinical Dysmorphology, 2016
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Pavone P, Praticò AD, Falsaperla R, RUGGIERI, MARTINO, Neri G, PAVONE, VITO, Zollino M.   +6 more
openaire   +3 more sources

DXS10011: a hypervariable TTTC/GAAA repeat marker on human chromosome Xq27-q28

International Congress Series, 2003
Abstract We mapped human STS UT413 on human chromosome Xq27-q28, renamed it DXS10011 and developed an easy method of analysis using capillary electrophoresis. The probability of discrimination was 0.954 from 1198 chromosomes in the Japanese population. DXS10011 is a hypervariable and stable marker on the human X chromosome.
T Matsuki, K Sawazaki, E Tsubota, R Iida
openaire   +1 more source

A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome

Human Genetics, 1989
We have isolated an X chromosome probe, St35.691 (DXS305), which detects two RFLPs with TaqI and PstI, whose combined heterozygosity is about 60%. This probe has been assigned to Xq28 by physical and genetic mapping and is very closely linked to DXS52, DXS15, and the coagulation factor VIII gene (F8C).
A, Vincent, C, Kretz, I, Oberlé, J L, Mandel   +3 more
openaire   +2 more sources