Although recurrent trisomy 21 may be due to chance, the possibility of germline mosaicism for trisomy 21 in one of the parents has important implications for recurrence risk. [ncbi.nlm.nih.gov]

Francisco Junior, Pedro Thyago Mozer Rodrigues, Douglas Terra Machado, Cíntia Barros Santos-Rebouças, Maria Gomes Fernandes, Susana Marina Chuva de Sousa Lopes, Álvaro Fabricio Lopes Rios, Enrique Medina-Acosta, Osman El-Maarri, Trisomy 21 Alters DNA [onlinelibrary.wiley.com]

The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. [archive-ouverte.unige.ch]

Recurrent trisomy 21 and uniparental disomy 21 in a family. Fetal Diagnosis and Therapy, 18 (6), 454-458. Recurrent trisomy 21 and uniparental disomy 21 in a family. / Bán, Z. ; Nagy, B. ; Papp, C. ; Beke, A. ; Tóth-Pál, E. ; Papp, Z. [hungary.pure.elsevier.com]

[…] congenital achromatopsia (rod monochr.) 14 mat Pentao et al. (1992) Bloom syndrome (with Prader-Willi syndrome) 15 mat Woodage et al. (1994) Hydrops fetalis alpha-thalassemia 16 pat N'go et al. (1993) Duchenne muscular dystrophy X mat Quan et al. (1994) Hemophilia [atlasgeneticsoncology.org]

[…] to thrive; High or cleft palate or bifid uvula; Crowded teeth with abnormally shaped teeth and some missing teeth; Behaviour patterns include hyperactivity, chaotic behaviour and a happy personality with bouts of anxiety or aggression. [genomicsforlife.com.au]

Failure to thrive, the doctors called it. Maddeningly unspecific. There wasn't much they could do. "I don't think they thought he would live," recalls Gallagher. "He was so lifeless." [news.psu.edu]

A review of the literature for recurrent trisomy 21 cases studied by molecular means, suggests that mosaicism in germ cells may account for more cases than is detected cytogenetically. [ncbi.nlm.nih.gov]

Uniparental disomy can involve homozygosity for the chromosome, and the term isodisomy has been suggested for this phenomenon {456; 757}. If uniparental chromosomes are heterozygote this is called heterodisomy. [fish.uniklinikum-jena.de]

As the fetus grows larger, increasingly more detail can be seen by ultrasound and therefore your obstetrician may suggest more than one follow-up sonogram. [trisomy16.org]

This finding suggests the occurrence of non-disjunction during meiosis. Subsequently, we compared all the genotypes for SNPs along the involved chromosomes, between the mother and the fetus. [e-kjgm.org]

Abstract Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. [jmg.bmj.com]

The disorder may also be characterized by delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation), including impaired speech and language skills. [rarediseases.org]

Vermeesch, Leuven, Belgium psychomotor retardation; severe developmental delay; no sexual development; short stature, microcephaly; brachycephaly; large nose, behavioral problems; birth was "difficult" - weight 2850g; 21-W- q11.2 21.1/ 1-2 male/ newborn [ssmc-tl.com]