scholarly journals De novo partial monosomy 21 with unusual karyotype

1986 ◽  
Vol 31 (1) ◽  
pp. 45-48 ◽  
Author(s):  
S. A. Al-Awadi ◽  
K. K. Naguib ◽  
A. S. Teebi ◽  
T. S. Sundareshan
Keyword(s):  
De Novo ◽  
Partial Monosomy ◽  
Monosomy 21

scholarly journals De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

2020 ◽  
Author(s):  
Abul Kalam Azad ◽  
Lindsay Yanakakis ◽  
Samantha Issleb ◽  
Jessica Turina ◽  
Kelli Drabik ◽  
...  
Keyword(s):  
Superior Vena Cava ◽  
De Novo ◽  
Superior Vena ◽  
Vena Cava ◽  
Chromosome 21 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosomal Anomalies ◽  
Partial Monosomy ◽  
Increased Risk

Abstract Background Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit. Case presentation: We report a 37-year-old G1P0 woman initially screened by non-invasive prenatal testing with no positive findings that was followed by an 18-week anatomy scan with a fetal finding of duplication of the superior vena cava (SVC). The medical and family history was otherwise uneventful. After appropriate genetic counseling, amniocentesis was performed to evaluate suspected chromosomal anomalies. Conclusions Fluorescent in situ hybridization revealed loss of one chr 21 signal that was further delineated by chromosomal microarray analysis on uncultured amniocytes as a terminal 10 Mb deletion on chr 21q. Karyotype and microarrays on cultured amniocytes showed two cell lines for a mosaic 21q terminal deletion and monosomy 21. The combined molecular cytogenetics results reported as mos 45,XX,-21[10]/46,XX,del(21)(q22)dn[20].nuc ish(D21S342/D21S341/D21S259 × 1)[100].arr[GRCh37] 21q11.2q22.12(15412676_36272993)x1 ~ 2,21q22.12q22.3(36431283_47612400)x1. Parental chromosomal analysis revealed normal karyotypes. Thus, this was a de novo mosaic full and partial monosomy of chr 21 in a case with SVC duplication. Despite the association of congenital heart disease with monsomy 21 we could not find any published literature or online databases for this cytogenetic abnormality. The patient terminated the pregnancy following the abnormal molecular cytogenetic results due to the possible challenges the baby would face if carried to term.

Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature

2017 ◽  
Vol 153 (2) ◽  
pp. 81-85 ◽  
Author(s):  
Andréa C.M. Malinverni ◽  
Érika M. Yamashiro Coelho ◽  
Kelin Chen ◽  
Mileny E. Colovati ◽  
Mirlene C. Soares Pinho Cernach ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Manifestation ◽  
Great Variability ◽  
Review Of The Literature ◽  
Partial Monosomy ◽  
Dysmorphic Features ◽  
Large Size ◽  
Monosomy 21

Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.

Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46, XY, -9, + DER(9)T(6:9)(p211:p24)

2008 ◽  
Vol 28 (5) ◽  
pp. 375-384 ◽  
Author(s):  
Melanie S. Eden ◽  
James W. Thelin ◽  
Karen Michalski ◽  
Joyce A. Mitchell
Keyword(s):  
De Novo ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
De Novo Translocation

De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

2011 ◽  
Vol 134 (3) ◽  
pp. 243-248 ◽  
Author(s):  
E. Bartels ◽  
M. Draaken ◽  
B. Kazmierczak ◽  
S. Spranger ◽  
C. Schramm ◽  
...  
Keyword(s):  
Anorectal Malformation ◽  
De Novo ◽  
Partial Trisomy ◽  
Partial Monosomy ◽  
Trisomy 18P

De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case

Gene ◽  
2015 ◽  
Vol 573 (1) ◽  
pp. 166-170 ◽  
Author(s):  
Milena Simioni ◽  
Carlos Eduardo Steiner ◽  
Vera Lúcia Gil-da-Silva-Lopes
Keyword(s):  
Rare Case ◽  
De Novo ◽  
Partial Monosomy ◽  
Reciprocal Translocations

Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature

2016 ◽  
Vol 149 (4) ◽  
pp. 247-257
Author(s):  
Yo Niida ◽  
Hitoshi Sato ◽  
Mamoru Ozaki ◽  
Masatsune Itoh ◽  
Kanju Ikeno ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
De Novo ◽  
Chromosomal Rearrangements ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Parental Origin ◽  
Review Of The Literature ◽  
Balanced Translocation ◽  
Multicolor Fish ◽  
Partial Monosomy

Less than 1% of the cases with Angelman syndrome (AS) are caused by chromosomal rearrangements. This category of AS is not well defined and may manifest atypical phenotypes. Here, we report a girl with AS due to der(13)t(13;15)(q14.1;q12)mat. SNP array detected the precise deletion/duplication points and the parental origin of the 15q deletion. Multicolor FISH confirmed a balanced translocation t(13;15)(q14.1;q12) in her mother. Her facial appearance showed some features of dup(13)(pter→q14). Also, she lacked the most characteristic and unique behavioral symptoms of AS, i.e., frequent laughter, happy demeanor, and easy excitability. A review of the literature indicated that AS cases caused by chromosomal rearrangements can be classified into 2 major categories and 4 groups. The first category is paternal uniparental disomy 15, which is subdivided into isodisomy by de novo rob(15;15) and heterodisomy caused by paternal translocation. The second category is the deletion of the AS locus due to maternal reciprocal translocation, which is subdivided into 2 groups associated with partial monosomy by 3:1 segregation and partial trisomy by adjacent-2 segregation. Classification into these categories facilitates the understanding of the mechanisms of chromosomal rearrangements and helps in accurate diagnosis and genetic counseling of these rare forms of AS.

Partial Monosomy 21, Diminished Activity of Superoxide Dismutase, and Pulmonary Oxygen Toxicity

1988 ◽  
Vol 318 (25) ◽  
pp. 1666-1669 ◽  
Author(s):  
Alice D. Ackerman ◽  
James C. Fackler ◽  
Cathy M. Tuck-Muller ◽  
Margaret M. Tarpey ◽  
Bruce A. Freeman ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Oxygen Toxicity ◽  
Partial Monosomy ◽  
Monosomy 21
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