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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Ahmad M E, Dada R, Dada T, Kucheria K.: 14q(22) deletion in a familial case of anophthalmia with polydactyly. AJMG DOI=10.1002/ajmg.a.10146;120A:117-122, 2002 and 2003. [PubMed: 12794703]
Bacino C A.: Re: Clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly. AJMG DOI=10.1002/ajmg.a.20522; 126A: 109, 2003 and 2004. [PubMed: 15039983]
Kucheria K.: In response to Dr. Carlos A. Bacino and Dr. Gopalrao V. N. Velagaleti "14q(22) deletion in a familial case of anophthalmia with polydactyly". AJMG DOI=10.1002.ajmg.a.20525; 126A:110, 2003 and 2004.Dr. Kucheria in response has submitted another partial karyotype showing clearly the deletion of 14q22.
Velagaleti G V N.: Concerning ''14q(22) deletion in a familial case of anophthalmia with polydactyly". AJMG DOI=10.1002/ajmg.a.20521; 126A:108, 2003 and 2004. [PubMed: 15039982]Drs. Bacino and Velagaleti question the cytogenetics.Proband (II-1) and III-2=46,XY,del(14)(q22q23).Aberration: Interstitial deletionChromosomal Aneuploidy: 14q-Index Terms: Anophthalmia, polydactyly - Bennett C P, Betts D R, Seller M J: Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. J. Med. Genet. 28:280-281, 1991. [PMC free article: PMC1016834] [PubMed: 1856837]46,XX,del(14)(q22q23)de novo.Ultrasound examination at 21 weeks showed an unusually shaped fetal head, small orbits with the absence of eye lenses, loose skin at the back of the neck, and possible polydactyly. Pregnancy was terminated.Aberration: Interstitial deletionChromosomal Aneuploidy: 14q-Index Terms: Anophthalmia,Absent pituitary,PolydactylyNegative band
- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(14;22)(q22;q13); inv(14)(q22q32).Aberration: IP,RTNegative band
- Cohen M M, Rosenmann A, Dagan J, Legum C: Partial trisomy D: a diagnostic and cytogenetic dilemma. J. Med. Genet. 13:535-538, 1976. [PMC free article: PMC1013490] [PubMed: 1018316]47,XX,+del(14?)(q22).&47,XX,+del(14?)(pter -> q22:).Aberration: Terminal deletionNegative band
- Engelen J J M, Albrechts, J C M, Loots W J G, Hollanders-Crombach B H T M, Hamers A J H, Geraedts J P M.: Application of micro-FISH to delineate deletions. Cytogenet. Cell Genet. 75:167-171, 1996. [PubMed: 9040786]Case 2:46,XY,t(14;18)(14pter->14q22::18q21.1->18qter;,18pter->18q12.2::14q23->14qter),del(18)(q12.3)de novoThe patient is 3 years old, obese with psychomotor retardation, strabismus, pes equinovarus, and facial anomalies.Aberration: RT,IDChromosomal Aneuploidy: 18q-Index Terms: micro-FISH
- Engelen J J M, Loots W J G, Albrechts J C M, Plomp A S, van der Meer S B, Vles J S H, Hamers G J H, Geraedts J P M.: Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization. AJMG 75:409-413, 1998. [PubMed: 9482648]46,XY,t(14;18)(14pter->14q22::18q21.1->18qter)(18pter->18q12.2::14q22->14qter)de novoThe 3 year-old boy presented with psychomotor retardation, mild obesity, pes equinovarus, strabismus, and facial anomalies.Aberration: ID,RTChromosomal Aneuploidy: 18q-
- English C J, Davison E V, Bhate M S, Barrett L: Chromosome studies of males in an institution for the mentally handicapped. J. Med. Genet. 26:379-381, 1989. [PMC free article: PMC1015622] [PubMed: 2525623]mos47,XY,+21(27)/47,XY,+21,t(14;14)(q32.3;q22)(3).Aberration: Simple translocationNegative band
- Fawcett W A, McCord W K, Francke U: Trisomy 14q-. BD-OAS XI(No. 5):223-228, 1975. [PubMed: 1218218]46,XX,t(14;20)(q22;q13).&"46,XX,t(14;20)(14pter -> 14q22::20q13 -> 20qter;20pter -> 20q13::14q22 -> 14qter)."Case V.J. (201173) in this report.47,XX,+der(14)t(14;20)(q22;q13)mat.&"46,XY,der(14)der(20)t(14;20)(q22;q13)mat."Aberration: Reciprocal translocationNegative band
- Hales H A, Peterson C M, Carey J, Hecht B K M, Hecht F: Prenatal detection of de novo paracentric inversion 46,XX inv(14)(q22q32.1) in a normal child: report and review of the literature. AJMG 47:848-851, 1993. [PubMed: 8279482]Patient L.D.46,XX,inv(14)(q22q32.1)de novo-blood and amniotic fluid.The newborn was normal except that she had three dimples in the sacral region.Aberration: Inversion paracentricNegative band
- Same entry as in 02q330,02q370 (Kratzer et al, 1992).
- North K N, Wu B L, Cao B N, Whiteman D A H, Korf B R.: CHARGE association in a child with de novo inverted duplication (14)(q22->q24.3)., 1995. [PubMed: 7573139]46,XX,inv dup(14)(q22->q24.3)de novo.The 4 and 1/2 year old had CHARGE association characteristics and iris coloboma, VSD, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, and palpebral fissures.Aberration: DuplicationMIM#: 214800Chromosomal Aneuploidy: 14q+Index Terms: CHARGE associationNegative band
- Sharland M, Jones M, Bain M, Chalmers R, Hammond J, Patton M A: "Balanced translocation (14;20) in a mentally handicapped child with cystinuria." J. Med. Genet. 29:507-508, 1992. [PMC free article: PMC1016032] [PubMed: 1640435]46,XX,t(14;20)(q22;p13)de novo.Aberration: Reciprocal translocationMIM#: 220100Index Terms: CystinuriaNegative band
- Uchida I A, Freeman V, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1771.46,XX,inv(14)(q22q32.3)mat.Aberration: Inversion paracentricNegative band
- Uehara S, Tanigawara S, Takeyama Y, Takabayashi T, Okamura K, Yajima A.: Paracentric inversion of chromosome 14: a case report. Jpn. J. Hum. Genet. 39: 353-356, 1994. [PubMed: 7841446]46,XX,der inv(14)(q22q32)pat.Both the individuals were phenotypically normal. The inversion was detected prenatally.Aberration: Inversion paracentricNegative band
- Same entry as in 05p120,11q250 (Warburton, 1991).
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XX,t(14;20)(q22;p11.2).Aberration: Reciprocal translocationNegative band
- Yeatman G W, Riccardi V M: Partial trisomy of chromosome 14: (+14q-). BD-OAS XII(No. 5):119-124, 1976. [PubMed: 953211]47,XX,+del(14)(q22).&47,XX,+del(14)(pter -> q22:).Aberration: Terminal deletionNegative band
- 14q220 - Chromosomal Variation in Man14q220 - Chromosomal Variation in Man
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