3/20/2023 0 Comments Pelger huet anomaly14Īt about the same time, investigations in autosomal recessive Greenberg/HEM (hydrops, ectopic calcifications, moth-eaten) dysplasia had led to the same gene from quite a different angle. Homozygosity for the founder mutation was detected in one patient that was previously reported with mild congenital abnormalities and homozygous PHA on haematological investigations. 4 One single founder mutation was detected in 10 Gelenau families, as well as seven other mutations in 10 families from elsewhere. In 2002, through positional cloning, mutations in the lamin B receptor gene ( LBR) on 1q42 were found to cause PHA. 8– 14 Ever since, PHA homozygosity has been associated with (skeletal) abnormalities and early lethality, though mainly based on animal data. Homozygosity for PHA was first detected in rabbits, 5– 7 before it was described in man. 3 The frequency of PHA ranges from 0.01–0.1%, with documented clustering in the region of Gelenau, Germany, where 1% of the population has PHA. 3 Bilobulated PHA nuclei (“spectacle” or “pince-nez” cells) can also be a transient symptom in the presence of underlying disease (-for example, infection, myeloid leukaemia or medication) as part of a “shift to the left” (pseudo PHA), but constitutional PHA is a constant, genetic, and harmless nucleomorphic variant. 2 In the following years many families with Pelger-Huët anomaly (PHA) from different countries were reported and autosomal dominant inheritance was firmly established. 1 This was subsequently shown to be a genetic trait by paediatrician Huët. In 1928 the Dutch physician Pelger described two patients with a morphological abnormality of leukocytes that consisted of hypolobulation of the nuclei: there were two lobes instead of the usual five or more and the chromatin structure was coarse and denser. HEM, hydrops, ectopic calcifications, moth-eaten.Our findings suggest a multigenic origin of Pelger-Huet anomaly in rabbits, because only male and female offspring with the otter colour of fur were severely affected by this congenital disorder. Moreover, severe arterial abnormalities in the pelvic cavity and proximal part of the pelvic limbs were also found in these rabbits. Karyotype analyses of the lymphocytes revealed many chromosomal aberrations in affected rabbits. This anomaly was confirmed by blood examination in which granulocytes with oval nuclei and a very coarse chromatin pattern, as well as lymphocytes with micronuclei were noticed. All affected rabbits were smaller and had local alopecia, exophthalmus, and limb deviations compared to their healthy littermates thus, a homozygous form of Pelger-Huet anomaly was suspected. 95-101 ISSN: 0375-8427 Subject: alopecia, case studies, chromatin, color, congenital abnormalities, crossbreds, females, fur, granulocytes, homozygosity, karyotyping, males, progeny Abstract: In this case report, three different crossbreedings of pet rabbits were performed producing affected as well as healthy bunnies. Hromada Source: Veterinární medicína v.59 no.2 pp. Homozygous Pelger-Huet anomaly in three different crossbred rabbits: a case report Author: P.
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