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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- Cook L, Weaver D D, Hartsfield J K, Jr, Vance G H.: De novo 10q22 interstitial deletion. J. Med. Genet. 36:71-72, 1999. [PMC free article: PMC1762961] [PubMed: 9950372]Proband FN 89524:46,XY,del(10)(q22.1q22.3)de novoThe proband, at 4 months of age, was referred for dysmorphic features, developmental delay, and growth deficiency.Aberration: Interstitial deletionChromosomal Aneuploidy: 10q-
- Goss P W, Voullaire L, Gardner R J M.: Duplication 10q22.1-q25.1 due to intrachromosomal insertion: a second case. Ann. Genet. 41:161-163, 1998. [PubMed: 9833071]Patient S.M.:46,XX,dir ins(10)(q26.1q22.1q25.1)de novoThe patient was 12 years old with MR and distinctive facial dysmorphology including blepharophimosis, with downslanting palpebral fissures and epicanthus inversus.Aberration: Direct insertions within a chromosomeChromosomal Aneuploidy: 10q+
- Juberg R C, Christopher C R, Alvira M M, Gilbert E F: "Clinicopathologic conference: dup(10q),del(12p) in one abnormal, dizygotic twin infant of a t(10;12)(q22.1;p13.3) mother." AJMG 18:201-213, 1984. [PubMed: 6465197]46,XX,t(10;12)(q22.1;p13.3).,46,XY,der(12),t(10;12)(10qter->10q22.1::12p13.3->12pter)mat.,46,XX,der(10)der(12)t(10;12)(q22.1;p13.3)mat.Aberration: Simple translocationNegative band
- Raimondi S C, Luthardt F W, Summitt R L, Martens P R: High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements. Hum. Genet. 63:310-314, 1983. [PubMed: 6862433]46,XX,rcp(10;17)(q22.1;p13.1).Aberration: Reciprocal translocationNegative band
- Tuck-Muller C M, Dyken P R, Li S, Chen H, Labbe E, Wertelecki W.: Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease). AJMG 57:168-171, 1995. [PubMed: 7668324]46,XX,t(10;18)(q22.1;q21.1).At age 21 years the patient is in a near vegetative state but has been followed since infancy when the diagnosis of Batten disease ( juvenile NCL) was made.Father died following a series of strokes when the patient was 3 years old. Mother and a sister have normal karyotypes.Aberration: Reciprocal translocationMIM#: 204200Index Terms: Batten disease,Juvenile Neuronal Ceroid-lipofuscinosisNegative band
- Tuerlings J H A M, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M N, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl K B J, Kremer J A M, Smeets D F C M.: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Europ. J. Hum. Genet. 6:194-200, 1998. [PubMed: 9781022]46,XY,der t(10;12)(q22.1;p13.1)Aberration: Simple translocationIndex Terms: ICSI
- 10q221 - Chromosomal Variation in Man10q221 - Chromosomal Variation in Man
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