Results 81 to 90 of about 48,299 (209)

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance

The Turkish Journal of Pediatrics, 2008
Pseudo-trisomy 13 is defined in chromosomally normal patients with holoprosencephaly and associating features suggestive of trisomy 13. An autosomal recessive pattern of inheritance for this situation is most likely, but a gene for this condition ...
G Eda Utine, Yasemin Alanay, Dilek Aktaş, Beril Talim, Gülsev Kale, Ergül Tunçbilek   +5 more
doaj  

Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non‐Hodgkin lymphomas

British Journal of Haematology, EarlyView.
Optical genome mapping (OGM) is feasible on fresh and frozen tissue lymphoma samples and demonstrated its added value for accurate diagnostic classification. OGM surpasses karyotype and FISH in refining diagnoses of lymphoma, identifying class‐defining rearrangements along with prognostic markers.
Coura Fall, Agnès Daudignon, Séverine Valmary‐Degano, Julie Mondet, Lucile Bussot, Lysiane Molina, Simon Chevalier, Edouard Bonneville, Pierre Aubert, Sylvie Tondeur, Clémentine Legrand, Jean‐Baptiste Gaillard, Hélène Guermouche, Anouk Emadali, Sylvain Carras, Christine Lefebvre   +15 more
wiley   +1 more source

Spontaneous hepatic tumor regression in an infant with trisomy 18

Pediatric Investigation, EarlyView.
Masashi Hotta, Katsuya Hirata, Shota Inoue, Kohei Higuchi, Eriko Nishi, Kazuko Wada   +5 more
wiley   +1 more source

Spontaneous miscarriage after intracytoplasmic sperm injection with frozen sperm of patients with testicular germ cell tumour

BJU International, EarlyView.
Objective To clarify the impact of chromosomal aberrations on the offspring of patients with testicular germ cell tumour (TGCT) by evaluating the outcomes of intracytoplasmic sperm injection (ICSI). Patients and Methods Under the ethical review of Yokohama City University, 12 patients with TGCT and 25 with non‐TGCT cancer who had cryopreserved sperm ...
Haru Hamada, Akifumi Ijuin, Tomonari Hayama, Naoki Tsuchiya, Sumiko Sueyoshi, Misaki Toda, Ai Miyakoshi, Mayuko Kurumizaka, Marina Saito, Yuki Oike, Hiroe Ueno, Shinnosuke Kuroda, Kazumi Takeshima, Teppei Takeshima, Shin Saito, Ryoko Asano, Taichi Mizushima, Yasushi Yumura, Hideya Sakakibara, Etsuko Miyagi, Miki Tanoshima, Mariko Murase   +21 more
wiley   +1 more source

Trisomy 13: Survival beyond the NICU. [PDF]

Neoreviews, 2023
Hu RS, Heffernan J, Sims J, Wojcik MH.
europepmc   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

International Medical Case Reports Journal, 2015
Toni Kasole Lubala,1,2 Olivier Mukuku,1 Mick Pongombo Shongo,1,2 Augustin Mulangu Mutombo,1 Nina Lubala,1 Oscar Numbi Luboya,1 Prosper Lukusa-Tshilobo3 1Department of Paediatrics, Faculty of Medicine, 2Center for Human Genetics, Faculty of Medicine ...
Lubala TK, Mukuku O, Shongo MP, Mutombo AM, Lubala N, Luboya ON, Lukusa-Tshilobo P   +6 more
doaj  

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome

Clinical Genetics, EarlyView.
We propose a phenotype‐based diagnostic framework for short telomere syndrome that integrates age‐adjusted telomere length, phenotypic manifestations, and genetic findings, where available. The framework is intended to guide clinical evaluation, longitudinal surveillance, and individualized management while acknowledging limitations in current telomere
Andrew Courtwright, Richard A. King, Jennie Vagher, Cate T. Levy, Juan Gallegos F. Orozco, Luis FZ Batista, Afaf Osman, Srinivas Tantavahi, Mary Beth Scholand   +8 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source