To our knowledge these are the first documented observations of a single bird with largely uniparental
incubation alternately attending two nests during the incubation period.
The bioinformatics pipeline at AiLife enables the detection of SNVs, Indels, CNVs and SVs as well as uniparental
disomy (UPD) and absence of heterozygosity (AOH) detections.
In 65%-75% of cases, the cause is a deletion of the father's chromosome in the 15q11-q13 region, 20%-30% of patients will have maternal uniparental
disomy of chromosome 15, and a defect in the region that controls the imprinting process is responsible in only 1%-3% of patients (6,7).
The couples should be aware of the potential risks encountered with implantation of mosaic embryos, their lower implantation rate and higher abortion rate, the risk of fetal demise or uniparental
disomy, the emotional and financial risk and also the couples should be informed that most of associated risks following mosaic embryos transfer are still unknown.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder resulting from absence of paternally imprinted genes in the 15q11-13 region, caused by deletion in the paternal chromosome (del15q) in about 70% of cases or disomy of the maternal chromosome [maternal uniparental
disomy of chromosome 15 (mUPD15)] in about 25% (1).
We thank Jean-Claude Malausa and Nicolas Ris from the INRA Vallbonne (France) for the uniparental
strain of Aspidiotus nerii.
Aunque el estudio confirma a la madre como la principal cuidadora, tambien aparece la figura de madre cabeza de familia o grupo uniparental
por linea materna, cuyas condiciones sociales son mas precarias por la inestabilidad economica y las escasas redes de apoyo, lo cual la deja en condicion de vulnerabilidad y riesgo social, afectando a su vez el cuidado y la atencion integral que requiere el nino o nina con discapacidad.
Genetic make up and structure of Colombian populations by means of uniparental
and biparental DNA markers.
disomy in Robertsonian translocations: strategies for uniparental
A wide range of partial aneuploidy, including dup (3q), dup (11p) , inv (11), dup (1q), del (1q), dup (4q), dup (5p), dup (6q), del (9p), dup (15q) , dup (17q), dup (7q)/del (21q) , dup (3q)/del (9q) , Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental
disomy (UPD) such as UPD11 and UPD14, is also reported to be associated with omphalocele [4, 10, 11, 14, 15].
Nishihara et al., "Copy number alteration and uniparental
disomy analysis categorizes Japanese papillary thyroid carcinomas into distinct groups," PLoS One, vol.
The second is maternal uniparental
disomy 15 (mUPD; when both copies of chromosome 15 are maternally inherited) found in 25% .