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Carole A Samango-Sprouse

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Citations 315
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Recent Articles
1.
Hamzik M, Gropman A, Brooks M, Powell S, Sadeghin T, Samango-Sprouse C
Genes (Basel) . 2023 Jul; 14(7). PMID: 37510306
47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal aneuploidy (SCA). Hormonal replacement therapy (HRT) has been associated with improved neurodevelopmental capabilities in boys with 47,XXY,...
2.
Samango-Sprouse C, Hamzik M, Gropman E, Brooks M, Powell S, Taylor A, et al.
Genet Med . 2023 Apr; 25(7):100847. PMID: 37061875
Purpose: 49,XXXXY (1:85,000-100,000) is a rare sex chromosome aneuploidy that often presents with complex musculoskeletal abnormalities, decreased cognitive capabilities, speech and language dysfunction, and behavioral complications. Hormonal replacement therapy, or...
3.
Samango-Sprouse C, Hamzik M, Khaksari K, Brooks M, Sadeghin T, Gropman A
J Dev Behav Pediatr . 2022 Aug; 43(9):e623-e628. PMID: 35947806
Introduction: 47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal variation (1:660). The neurocognitive profile of boys with 47,XXY, in addition to verbal abilities, language skills,...
4.
Samango-Sprouse C, Hamzik M, Rosenbaum K, Khaksari K, Mitchell F, Kommareddi R, et al.
Front Pediatr . 2022 Apr; 10:817133. PMID: 35372156
Pallister-Killian syndrome is an uncommon genetic disorder that has broad developmental and multisystemic effects. While medical complications are widely reported throughout the literature, research on the neurodevelopmental profile has been...
5.
Song S, Gropman A, Benjamin R, Mitchell F, Brooks M, Hamzik M, et al.
Front Genet . 2022 Jan; 12:808006. PMID: 35096019
Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal...
6.
Martin K, Samango-Sprouse C, Kantor V, Dhamankar R, Valenti E, Trefogli M, et al.
Am J Obstet Gynecol MFM . 2020 Dec; 2(3):100152. PMID: 33345882
Background: Maternal X chromosome abnormalities may cause discordant results between noninvasive prenatal screening tests and diagnostic evaluation of the fetus/newborn, leading to unnecessary invasive testing. Women with X chromosome abnormalities...
7.
Samango-Sprouse C, Lasutschinkow P, McLeod M, Porter G, Powell S, St Laurent J, et al.
Am J Med Genet A . 2020 Jul; 185(12):3567-3575. PMID: 32725750
49,XXXXY is the rarest X and Y chromosomal variation and is frequently characterized by expressive and receptive language dysfunction, low muscle tonus, and intellectual deficits. Due to the low incidence...
8.
Gropman A, Porter G, Lasutschinkow P, Sadeghin T, Tipton E, Powell S, et al.
Am J Med Genet A . 2020 Jul; 185(12):3541-3546. PMID: 32662248
49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads,...
9.
Samango-Sprouse C, Gropman A
Am J Med Genet A . 2020 Jul; 185(12):3554-3556. PMID: 32656873
No abstract available.
10.
Counts D, Yu C, Lasutschinkow P, Sadeghin T, Gropman A, Samango-Sprouse C
Am J Med Genet A . 2020 Jul; 185(12):3547-3553. PMID: 32618131
49,XXXXY is an X and Y chromosome variation that occurs in 1:85,000 to 1:100,000 live male births. Previous case studies have described boys with this disorder to be shorter than...