Cleft Palate in a Newborn with Duplication 2(q13q23)

2004 ◽  
Vol 41 (5) ◽  
pp. 568-570 ◽  
Author(s):  
Sharon L. Wenger ◽  
Ona C. Bleigh ◽  
Marybeth Hummel
Keyword(s):  
Cleft Palate ◽  
Fluorescent In Situ Hybridization ◽  
Neonatal Intensive Care ◽  
De Novo ◽  
Tertiary Care ◽  
Chromosome Analysis ◽  
Chromosome 2 ◽  
Additional Material ◽  
Hybridization Test

Objectives A preterm boy was born with multiple anomalies including cleft palate and ventricular septal defect. Chromosome analysis on a blood sample identified additional material within the long arm of chromosome 2. Setting The newborn was in the neonatal intensive care unit requiring tertiary care during his 22 days of life. Results A supplementary fluorescent in situ hybridization test was performed to confirm the extra chromosomal material was chromosome 2. Parents’ chromosomes were normal, indicating a de novo duplication of 2q13q23. Conclusion Comparison of this case with those in the literature suggests involvement of cleft palate of cases with duplication of 2q13.

scholarly journals Associations between Amplification (1q) and Prior Cancer in a Real-World De Novo Myeloma Cohort

2021 ◽  
Author(s):  
Elizabeth B Lamont ◽  
Andrew J Yee ◽  
Stuart L Goldberg ◽  
David S Siegel ◽  
Andrew D Norden
Keyword(s):  
Real World ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Chromosome 1 ◽  
Second Malignancies ◽  
Cancer History ◽  
Screening Strategies ◽  
Cytogenetic Testing

Abstract Genomic biomarkers inform treatment in multiple myeloma (MM) making patient clinical data a potential window into MM biology. We evaluated de novo MM patients for associations between specific MM cytogenetic patterns and prior cancer history. Analyzing a MM real-world dataset (RWD), we identified a cohort of 1,769 patients with fluorescent in-situ hybridization (FISH) cytogenetic testing at diagnosis. Fully 241 patients (0.14) had histories of prior cancer(s). Amplification of the long arm of chromosome 1 [amp(1q)] varied by prior cancer history (0.31 with prior cancer vs 0.24 without; p = .02). No other MM translocations, amplifications, or deletions were associated with prior cancers. Amp(1q) and cancer history remained strongly associated in a logistic regression adjusting for patient demographic and disease attributes. The results merit follow-up regarding carcinogenic treatment effects and screening strategies for second malignancies. Broadly the findings suggest analyses of patient-level phenotypic-genomic RWD may accelerate cancer research through hypothesis generating studies.

Recovery of a telomere-truncated chromosome via a compensating translocation in maize

Genome ◽  
2011 ◽  
Vol 54 (3) ◽  
pp. 184-195 ◽  
Author(s):  
Robert T. Gaeta ◽  
Tatiana V. Danilova ◽  
Changzeng Zhao ◽  
Rick E. Masonbrink ◽  
Morgan E. McCaw ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Transgene Expression ◽  
De Novo ◽  
Extra Chromosome ◽  
Single Gene ◽  
B Chromosomes ◽  
Chromosome 1 ◽  
Chromosome 6

Maize-engineered minichromosomes are easily recovered from telomere-truncated B chromosomes but are rarely recovered from A chromosomes. B chromosomes lack known genes, and their truncation products are tolerated and transmitted during meiosis. In contrast, deficiency gametes resulting from truncated A chromosomes prevent their transmission. We report here a de novo compensating translocation that permitted recovery of a large truncation of chromosome 1 in maize. The truncation (trunc-1) and translocation with chromosome 6 (super-6) occurred during telomere-mediated truncation experiments and were characterized using single-gene fluorescent in situ hybridization (FISH) probes. The truncation contained a transgene signal near the end of the broken chromosome and transmitted together with the compensating translocation as a heterozygote to approximately 41%–55% of progeny. Transmission as an addition chromosome occurred in ~15% of progeny. Neither chromosome transmitted through pollen. Transgene expression (Bar) cosegregated with trunc-1 transcriptionally and phenotypically. Meiosis in T1 plants revealed eight bivalents and one tetravalent chain composed of chromosome 1, trunc-1, chromosome 6, and super-6 in diplotene and diakinesis. Our data suggest that de novo compensating translocations allow recovery of truncated A chromosomes by compensating deficiency in female gametes and by affecting chromosome pairing and segregation. The truncated chromosome can be maintained as an extra chromosome or together with the super-6 as a heterozygote.

scholarly journals An infant with 49XXXXY syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
N. P. G. C. R. Naotunna ◽  
C. Liyanage ◽  
N. Atapattu
Keyword(s):  
Care Center ◽  
Tertiary Care ◽  
Chromosome Analysis ◽  
Dehydroepiandrosterone Sulfate ◽  
Ambiguous Genitalia ◽  
Normal Vaginal Delivery ◽  
Sri Lankan ◽  
Pediatric Endocrinology ◽  
First Child

Abstract Background 49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000–100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka. Case presentation A 10-day-old Sri Lankan neonate born in a tertiary care center was referred to the pediatric endocrinology unit of Lady Ridgeway Hospital due to detection of ambiguous genitalia at birth. He was the first child born to nonconsanguineous healthy parents following an uncomplicated antenatal period. He was born at term via normal vaginal delivery, with a birth weight of 2.385 kg. The baby was active, and there was no documented hypoglycemia or alteration in basic biochemical investigations. On examination, the child had hypertelorism, upslanting palpebral fissures, flat occiput, and mild webbing of the neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2 cm phallus, and bilateral testis in situ. Hormonal analysis, including dehydroepiandrosterone sulfate, testosterone, and 17-OH progesterone levels, was normal except for an elevated level of follicle-stimulating hormone, indicating gonadal dysgenesis. Ultrasound of the abdomen detected testis located at bilateral inguinal canal, and no Müllerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis revealed 49XXXXY syndrome. Conclusion 49XXXXY syndrome should be entertained as a rare possibility for ambiguous genitalia, and karyotyping is an essential investigation for evaluation of such patients.

Evaluation of a Dual ALK/ROS1 Fluorescent In Situ Hybridization Test in Non–Small-cell Lung Cancer

2018 ◽  
Vol 19 (5) ◽  
pp. e647-e653 ◽  
Author(s):  
Florent Ginestet ◽  
Laetitia Lambros ◽  
Glen Le Flahec ◽  
Pascale Marcorelles ◽  
Arnaud Uguen
Keyword(s):  
Lung Cancer ◽  
In Situ Hybridization ◽  
Small Cell Lung Cancer ◽  
Cell Lung Cancer ◽  
Fluorescent In Situ Hybridization ◽  
Small Cell ◽  
Small Cell Lung ◽  
Hybridization Test

scholarly journals Chromosome analysis using different staining techniques and fluorescent in situ hybridization in Cerithium vulgatum (Gastropoda: Cerithiidae)

Hereditas ◽  
2002 ◽  
Vol 137 (2) ◽  
pp. 101-106 ◽  
Author(s):  
R. VITTURI1 ◽  
M. COLOMBA2 ◽  
L. CASTRIOTA3 ◽  
A. M. BELTRANO4 ◽  
A. LANNINO1 ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Chromosome Analysis ◽  
Staining Techniques

scholarly journals The Largest Paracentric Inversion, The Highest Rate Of Recombinant Spermatozoa. Case Report: 46,Xy, Inv(2)(Q21.2Q37.3) And Literature Review

2014 ◽  
Vol 17 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Yapan C.C. ◽  
Beyazyurek C. ◽  
Ekmekci C.G. ◽  
Kahraman S.
Keyword(s):  
Fluorescent In Situ Hybridization ◽  
Segregation Analysis ◽  
Paracentric Inversion ◽  
Clear Correlation ◽  
Fish Analysis ◽  
Chromosome 2 ◽  
Infertile Male ◽  
Sperm Fish ◽  
Meiotic Crossover

Abstract Carriers of inversions involving euchromatic regions are at risk of having unbalanced offspring due to meiotic crossover. In carriers, recombination can occur during gametogenesis and cause genetically unbalanced sperm and subsequently unbalanced embryos. Here we present segregation analysis results of an infertile male with 46,XY,inv(2) (q21.2q37.3) using fluorescent in situ hybridization (FISH) on sperm cells. This is the largest paracentric inversion (PAI) reported so far in a meiotic segregation analysis study. Sperm FISH revealed 28.0% recombinant spermatozoa rate for chromosome 2, which was the highest rate in PAI carriers in the literature. Our results indicate a clear correlation between the size of the inverted segment and the frequency of the recombinant spermatozoa. The results of the FISH analysis with the information of unbalanced spermatozoa rate can provide accurate counseling on the genetic risk of infertility.

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