Several cases of maternal UPD have been reported.
A phenotypically normal woman presented with repeated early miscarriages. The karyotype showed iso(4p) and iso(4q) and biochemical "polymorphisms" suggested maternal disomy. The abstract ambiguously states that polymorphic chromosome 4 marker studies indicated that she was possibly isodisomic (Lindenbaum RH et al, Am J Med Genet. 1991; 49(Suppl): p. 285; A1582).
Spena S et al (2004) described a case of congenital afibrinogenaemia in a Thai proband due to maternal isodisomy. A 15-kb deletion was discovered in the FGA intron and FGA-FGB intergenic region. Imprinting was considered unlikely.
In a whole genome linkage study of psychiatric disorders in a Portuguese population a case of maternal isodisomy was identified in an adult female with a history of major depressive disorder (MDD). Apart from MDD the individual was phenotypically normal (Middleton FA et al 2006).
Losekoot M et al (2012) reported a neonate with polycystic kidney disease, homozygous for a missense mutation in PKD2 due to segmental maternal isodisomy at the region of the PKD2 locus; the remainder of chromosome 4 displayed maternal heterodisomy.
Cotrell CE et al (2012) described a male patient with limb-girdle muscular dystrophy 2E (LGMD 2E) due to maternal UPD, leading to homozygosity for a mutation.
Papadimitriou DT et al (2015) reported a 10 year old female patient with Wolfram Syndrome (WS) caused by maternal isodisomy that unmasked a mutation in the WFS1 gene.
It is unlikely that there are any phenotypically significant maternally imprinted genes on chromosome 4, as in all cases reported so far, apart from the disease caused by homozygosity for specific mutations, the patients were phenotypically normal.

A case of paternal UPD has been identified by Faas BH et al (2010). The male proband had renal anomalies, a high forehead, small palpebral fissures, “rough” hands and feet with prominent distal phalanges, broad knees and normal psychomotor development.


Disomy (UPD)



Last Modified 1/23/2017


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